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AUH AU RNA binding methylglutaconyl-CoA hydratase [ Homo sapiens (human) ]

Gene ID: 549, updated on 11-Apr-2024

Summary

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Official Symbol
AUHprovided by HGNC
Official Full Name
AU RNA binding methylglutaconyl-CoA hydrataseprovided by HGNC
Primary source
HGNC:HGNC:890
See related
Ensembl:ENSG00000148090 MIM:600529; AllianceGenome:HGNC:890
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Expression
Ubiquitous expression in kidney (RPKM 3.8), prostate (RPKM 3.1) and 25 other tissues See more
Orthologs
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Genomic context

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See AUH in Genome Data Viewer
Location:
9q22.31
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (91213823..91361918, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (103379966..103528055, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (93976105..94124200, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2937 Neighboring gene long intergenic non-protein coding RNA 484 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:93909043-93909610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28584 Neighboring gene Sharpr-MPRA regulatory region 1412 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109153 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109154 Neighboring gene Sharpr-MPRA regulatory region 6399 Neighboring gene uncharacterized LOC124902208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:93956125-93956992 Neighboring gene Sharpr-MPRA regulatory region 9930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28586 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:93979563-93980163 Neighboring gene Sharpr-MPRA regulatory region 15085 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109225 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109279 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr9:94076941-94077442 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr9:94077443-94077942 Neighboring gene NANOG hESC enhancer GRCh37_chr9:94106111-94106766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20025 Neighboring gene MPRA-validated peak7289 silencer Neighboring gene uncharacterized LOC124902209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20026 Neighboring gene synapsin-1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:94188762-94188958 Neighboring gene nuclear factor, interleukin 3 regulated

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. Mercimek-Mahmutoglu S, et al. Mol Genet Metab, 2011 Nov. PMID 21840233
  2. AU-rich RNA-binding induces changes in the quaternary structure of AUH. Kurimoto K, et al. Proteins, 2009 May 1. PMID 18831052
  3. Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. Mack M, et al. FEBS J, 2006 May. PMID 16640564
  4. 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. Illsinger S, et al. Pediatr Neurol, 2004 Mar. PMID 15033206
  5. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Ly TB, et al. Hum Mutat, 2003 Apr. PMID 12655555

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AUH localizes to the inner mitochondrial membrane and matrix where it associates with mitochondrial ribosomes and regulates protein synthesis.
    Title: A bifunctional protein regulates mitochondrial protein synthesis.
  2. Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel deletion of exons 1-3 within the AUH gene.
    Title: Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.
  3. The AUH trimer dimerizes upon binding to one molecule of a long RNA containing 24 repeats of the AUUU motif, (AUUU)(24)A.
    Title: AU-rich RNA-binding induces changes in the quaternary structure of AUH.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  5. Human 3-methylglutaconyl-CoA hydratase is identical with RNA-binding protein (AUH); molecular analyses of MGA1 patients show homozygosity or compound heterozygosity for mutations in AUH.
    Title: Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
  6. 3-Methylglutaconic aciduria type I is caused by mutations in AUH
    Title: 3-Methylglutaconic aciduria type I is caused by mutations in AUH.
  7. Mutations in the AUH gene are linked to metabolic disease 3-methylglutaconic aciduria type I (MGA1).
    Title: Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.
  8. Mutation analysis in the AUH gene revealed homozygosity for a novel splice site mutation IVS9-2A>G. We conclude that MGA1 may be associated with fever-associated seizures even in children without delayed psychomotor development.
    Title: 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
3-methylglutaconic aciduria type 1
MedGen: C0342727 OMIM: 250950 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association study for diabetic nephropathy genes in African Americans.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enoyl-CoA hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables enoyl-CoA hydratase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables itaconyl-CoA hydratase activity IEA
Inferred from Electronic Annotation
more info
  
enables mRNA 3'-UTR binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables methylglutaconyl-CoA hydratase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in L-leucine catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
methylglutaconyl-CoA hydratase, mitochondrial
Names
3-MG-CoA hydratase
3-methylglutaconyl-CoA hydratase
AU RNA binding protein/enoyl-CoA hydratase
AU RNA-binding protein/enoyl-Coenzyme A hydratase
AU-binding protein/Enoyl-CoA hydratase
AU-specific RNA-binding enoyl-CoA hydratase
itaconyl-CoA hydratase
NP_001293119.1
NP_001338360.1
NP_001338361.1
NP_001338362.1
NP_001689.1
XP_005252123.1
XP_005252124.1
XP_005252126.1
XP_005252129.1
XP_006717213.1
XP_011517102.1
XP_011517105.1
XP_016870338.1
XP_047279481.1
XP_047279482.1
XP_047279483.1
XP_047279484.1
XP_047279485.1
XP_047279486.1
XP_054219127.1
XP_054219128.1
XP_054219129.1
XP_054219130.1
XP_054219131.1
XP_054219132.1
XP_054219133.1
XP_054219134.1
XP_054219135.1
XP_054219136.1
XP_054219137.1
XP_054219138.1
XP_054219139.1
XP_054219140.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008017.1 RefSeqGene

    Range
    4956..153110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_449

mRNA and Protein(s)

  1. NM_001306190.2 → NP_001293119.1  methylglutaconyl-CoA hydratase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001293119.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AV751432, BC020722, BI667104
    Consensus CDS
    CCDS78409.1
    UniProtKB/Swiss-Prot
    Q13825
    Related
    ENSP00000307334.5, ENST00000303617.5
    Conserved Domains (1) summary
    cl23717
    Location:86 → 310
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  2. NM_001351431.2 → NP_001338360.1  methylglutaconyl-CoA hydratase, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' region, resulting in a distinct 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) lacks the transit peptide found in isoform 1 and is shorter at the N-terminus compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
    Source sequence(s)
    AV751432, BG706374, BI667104, DA724873, HY155647, X79888
    Conserved Domains (1) summary
    cl23717
    Location:2 → 230
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  3. NM_001351432.2 → NP_001338361.1  methylglutaconyl-CoA hydratase, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 5' region, resulting in a distinct 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) lacks the transit peptide found in isoform 1 and is shorter at the N-terminus compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
    Source sequence(s)
    AV751432, BG333092, BG706374, BI667104, DA724873, X79888
    Conserved Domains (1) summary
    cl23717
    Location:2 → 230
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  4. NM_001351433.2 → NP_001338362.1  methylglutaconyl-CoA hydratase, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in the 5' region, resulting in a distinct 5' UTR, initiates translation at a downstream start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) lacks the transit peptide found in isoform 1, is shorter at the N-terminus and lacks an internal segment compared to isoform 1.
    Source sequence(s)
    AV751432, BG706374, BI667104, BM728035, DA724873, HY155647, X79888
    Conserved Domains (1) summary
    cl23717
    Location:2 → 214
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  5. NM_001698.3 → NP_001689.1  methylglutaconyl-CoA hydratase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001689.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AV751432, BG706374, DA724873, X79888
    Consensus CDS
    CCDS6689.1
    UniProtKB/Swiss-Prot
    B1ALV7, B1ALV8, Q13825, Q8WUE4
    Related
    ENSP00000364883.5, ENST00000375731.9
    Conserved Domains (1) summary
    cl23717
    Location:86 → 339
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    91213823..91361918 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423525.1 → XP_047279481.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X6

  2. XM_017014849.2 → XP_016870338.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X3

  3. XM_006717150.4 → XP_006717213.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X4

    Conserved Domains (1) summary
    cl23717
    Location:99 → 320
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  4. XM_005252067.5 → XP_005252124.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl23717
    Location:99 → 333
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  5. XM_005252066.4 → XP_005252123.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl23717
    Location:99 → 349
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  6. XM_047423528.1 → XP_047279484.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X11

  7. XM_047423527.1 → XP_047279483.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X10

  8. XM_047423530.1 → XP_047279486.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X13

  9. XM_047423526.1 → XP_047279482.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X7

  10. XM_005252069.5 → XP_005252126.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X5

    Conserved Domains (1) summary
    cl23717
    Location:99 → 287
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  11. XM_047423529.1 → XP_047279485.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X12

  12. XM_005252072.3 → XP_005252129.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X9

    See identical proteins and their annotated locations for XP_005252129.1

    UniProtKB/TrEMBL
    B4DYI6
    Conserved Domains (1) summary
    cl23717
    Location:86 → 217
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  13. XM_011518800.4 → XP_011517102.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X8

    Conserved Domains (1) summary
    cl23717
    Location:99 → 227
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  14. XM_011518803.3 → XP_011517105.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X14

    Conserved Domains (1) summary
    cl23717
    Location:99 → 149
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

RNA

  1. XR_007061324.1 RNA Sequence

  2. XR_007061323.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    103379966..103528055 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363157.1 → XP_054219132.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X6

  2. XM_054363154.1 → XP_054219129.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X3

  3. XM_054363155.1 → XP_054219130.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X4

  4. XM_054363153.1 → XP_054219128.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X2

  5. XM_054363152.1 → XP_054219127.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X1

  6. XM_054363162.1 → XP_054219137.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X11

  7. XM_054363161.1 → XP_054219136.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X10

  8. XM_054363164.1 → XP_054219139.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X13

  9. XM_054363158.1 → XP_054219133.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X7

  10. XM_054363156.1 → XP_054219131.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X5

  11. XM_054363163.1 → XP_054219138.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X12

  12. XM_054363159.1 → XP_054219134.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X8

  13. XM_054363160.1 → XP_054219135.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X9

    UniProtKB/TrEMBL
    B4DYI6

  14. XM_054363165.1 → XP_054219140.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X14

RNA

  1. XR_008488037.1 RNA Sequence

  2. XR_008488036.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13825.1 GenPept UniProtKB/Swiss-Prot:Q13825

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