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MCEE methylmalonyl-CoA epimerase [ Homo sapiens (human) ]

Gene ID: 84693, updated on 2-Nov-2024

Summary

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Official Symbol
MCEEprovided by HGNC
Official Full Name
methylmalonyl-CoA epimeraseprovided by HGNC
Primary source
HGNC:HGNC:16732
See related
Ensembl:ENSG00000124370 MIM:608419; AllianceGenome:HGNC:16732
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
Also known as
MCE; MMCE; GLOD2
Summary
The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 12.0), kidney (RPKM 11.0) and 25 other tissues See more
Orthologs
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Genomic context

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See MCEE in Genome Data Viewer
Location:
2p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (71109687..71130229, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (71120700..71141269, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71336817..71357359, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16011 Neighboring gene olfactory receptor family 7 subfamily E member 62 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71310886-71311700 Neighboring gene N-acetylglucosamine kinase Neighboring gene NANOG hESC enhancer GRCh37_chr2:71317686-71318275 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71330180-71330990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71345289-71345789 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71356582-71357440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16015 Neighboring gene M-phase phosphoprotein 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16016 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:71384714-71384875 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:71388687-71389348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71411093-71411594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71411595-71412094 Neighboring gene poly(A) binding protein interacting protein 2B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71453663-71454163

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 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. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Dobson CM, et al. Mol Genet Metab, 2006 Aug. PMID 16697227
  2. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Bikker H, et al. Hum Mutat, 2006 Jul. PMID 16752391
  3. Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. Heuberger K, et al. Biochim Biophys Acta Mol Basis Dis, 2019 Jun 1. PMID 30682498, Free PMC Article
  4. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). Gradinger AB, et al. Hum Mutat, 2007 Oct. PMID 17823972
  5. Isolated Methylmalonic Acidemia. Adam MP, et al. , 1993. PMID 20301409

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results indicate that methylmalonyl-CoA epimerase (MCEE)-Arg143Cys mutaaaaaaation was detectable at comparable levels to wildtype (wt) MCEE, but had slightly altered unfolding kinetics and greatly reduced activity.
    Title: Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  3. analysis of frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE) in atypical methylmalonic aciduria
    Title: Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
MedGen: C1855100 OMIM: 251120 GeneReviews: Isolated Methylmalonic Acidemia
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables methylmalonyl-CoA epimerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables methylmalonyl-CoA epimerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables methylmalonyl-CoA epimerase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in L-methylmalonyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in L-methylmalonyl-CoA metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in short-chain fatty acid catabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
methylmalonyl-CoA epimerase, mitochondrial
Names
DL-methylmalonyl-CoA racemase
glyoxalase domain containing 2
methylmalonyl CoA isomerase
NP_115990.3
XP_005264670.1
XP_047301995.1
XP_054200192.1
XP_054200193.1

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_008977.1 RefSeqGene

    Range
    5036..25578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032601.4 → NP_115990.3  methylmalonyl-CoA epimerase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_115990.3

    Status: REVIEWED

    Source sequence(s)
    AF364547, AI033764, BC020825
    Consensus CDS
    CCDS1915.1
    UniProtKB/Swiss-Prot
    Q53TP1, Q8WW63, Q96PE7
    Related
    ENSP00000244217.5, ENST00000244217.6
    Conserved Domains (1) summary
    TIGR03081
    Location:47 → 175
    metmalonyl_epim; methylmalonyl-CoA epimerase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    71109687..71130229 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264613.3 → XP_005264670.1  methylmalonyl-CoA epimerase, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_005264670.1

    Conserved Domains (1) summary
    cl14632
    Location:47 → 121
    VOC; vicinal oxygen chelate (VOC) family

  2. XM_047446039.1 → XP_047301995.1  methylmalonyl-CoA epimerase, mitochondrial isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    71120700..71141269 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344218.1 → XP_054200193.1  methylmalonyl-CoA epimerase, mitochondrial isoform X2

  2. XM_054344217.1 → XP_054200192.1  methylmalonyl-CoA epimerase, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96PE7.1 GenPept UniProtKB/Swiss-Prot:Q96PE7

Gene LinkOut

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