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    ACADM acyl-CoA dehydrogenase medium chain [ Homo sapiens (human) ]

    Gene ID: 34, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ACADMprovided by HGNC
    Official Full Name
    acyl-CoA dehydrogenase medium chainprovided by HGNC
    Primary source
    HGNC:HGNC:89
    See related
    Ensembl:ENSG00000117054 MIM:607008; AllianceGenome:HGNC:89
    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
    MCAD; ACAD1; MCADH
    Summary
    This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 85.4), heart (RPKM 68.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACADM in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (75724709..75763679)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (75561369..75600339)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (76190394..76229364)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 44 member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 995 Neighboring gene ribosomal protein L29 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1202 Neighboring gene diphosphoinositol pentakisphosphate kinase 2 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:76143731-76144390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:76185422-76186047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1207 Neighboring gene dihydrolipoamide S-succinyltransferase pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 45C Neighboring gene small nucleolar RNA, C/D box 45A Neighboring gene Rab geranylgeranyltransferase subunit beta

    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. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Adam MP, et al. , 1993. PMID 20301597
    2. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status. Korman SH, et al. Mol Genet Metab, 2004 Jun. PMID 15171999
    3. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Maier EM, et al. Hum Mutat, 2005 May. PMID 15832312
    4. Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening. Nennstiel-Ratzel U, et al. Mol Genet Metab, 2005 Jun. PMID 15896661
    5. Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation. Blois B, et al. J Inherit Metab Dis, 2005. PMID 15902558

    See all (164) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of PPAR-related genes in chronic heart failure: evidence from large populations.
      Title: Role of PPAR-related genes in chronic heart failure: evidence from large populations.
    2. Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.
      Title: Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.
    3. [Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].
      Title: [Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].
    4. Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
      Title: Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
    5. Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma.
      Title: Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma.
    6. Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
      Title: Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
    7. Suppression of ACADM-Mediated Fatty Acid Oxidation Promotes Hepatocellular Carcinoma via Aberrant CAV1/SREBP1 Signaling.
      Title: Suppression of ACADM-Mediated Fatty Acid Oxidation Promotes Hepatocellular Carcinoma via Aberrant CAV1/SREBP1 Signaling.
    8. Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
      Title: Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
    9. In six unrelated Chinese patients with medium-chain acyl-coenzyme A dehydrogenase deficiency, six mutations were found in acyl-CoA dehydrogenase medium chain (ACADM). One mutation (c.727C>T) was novel and the others (c.158G>A, c.387+1delG, c.449_452del, c.1045C>T, and c.1085G>A) have been previously reported.
      Title: Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
    10. Our study has revealed the unique genetic backgrounds of MCAD deficiency among Japanese, based on the largest series of non-Caucasian cases.
      Title: Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
    Submit: New GeneRIF Correction See all GeneRIFs (47)

    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

    EBI GWAS Catalog

    Description
    A genome-wide perspective of genetic variation in human metabolism.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    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

    Clone Names

    • FLJ18227, FLJ93013, FLJ99884

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acyl-CoA dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables medium-chain fatty acyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables medium-chain fatty acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in carnitine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in carnitine metabolic process, CoA-linked IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in medium-chain fatty acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in medium-chain fatty acid catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in medium-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cold IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to starvation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    medium-chain specific acyl-CoA dehydrogenase, mitochondrial
    Names
    acyl-CoA dehydrogenase, C-4 to C-12 straight chain
    acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
    medium-chain acyl-CoA dehydrogenase
    testicular tissue protein Li 7
    NP_000007.1
    NP_001120800.1
    NP_001272971.1
    NP_001272972.1
    NP_001272973.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_007045.2 RefSeqGene

      Range
      4990..44322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_838

    mRNA and Protein(s)

    1. NM_000016.6 → NP_000007.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_000007.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AL357314, BC005377
      Consensus CDS
      CCDS668.1
      UniProtKB/Swiss-Prot
      P11310, Q5T4U4, Q9NYF1
      UniProtKB/TrEMBL
      A0A0S2Z366, F6YB23
      Related
      ENSP00000359878.5, ENST00000370841.9
      Conserved Domains (1) summary
      cd01157
      Location:41 → 418
      MCAD; Medium chain acyl-CoA dehydrogenase

    2. NM_001127328.3 → NP_001120800.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_001120800.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is longer than isoform a.
      Source sequence(s)
      AF251043, AL357314
      Consensus CDS
      CCDS44165.1
      UniProtKB/TrEMBL
      F6YB23
      Related
      ENSP00000409612.2, ENST00000420607.6
      Conserved Domains (2) summary
      cd01157
      Location:45 → 422
      MCAD; Medium chain acyl-CoA dehydrogenase
      COG1960
      Location:43 → 424
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

    3. NM_001286042.2 → NP_001272971.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001272971.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an exon in the 5' coding region. These difference cause translation initiation at an alternate start codon compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus compared to isoform (a).
      Source sequence(s)
      AK315946, AL357314
      UniProtKB/TrEMBL
      B4DWX6, B7Z9I1
      Related
      ENSP00000505130.1, ENST00000681790.1
      Conserved Domains (1) summary
      cd01157
      Location:5 → 382
      MCAD; Medium chain acyl-CoA dehydrogenase

    4. NM_001286043.2 → NP_001272972.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform d precursor

      See identical proteins and their annotated locations for NP_001272972.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame exon in the central coding region compared to variant 1. The encoded isoform (d) is longer than isoform 1.
      Source sequence(s)
      AL357314, BX647734
      Consensus CDS
      CCDS72807.1
      UniProtKB/TrEMBL
      Q5HYG7, Q5T4U5
      Related
      ENSP00000359871.5, ENST00000370834.9
      Conserved Domains (2) summary
      cd01157
      Location:41 → 451
      MCAD; Medium chain acyl-CoA dehydrogenase
      COG1960
      Location:39 → 453
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

    5. NM_001286044.2 → NP_001272973.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform e

      See identical proteins and their annotated locations for NP_001272973.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 5' structure that results in the use downstream AUG compared to variant 1. The encoded isoform (e) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AK296045, AL357314
      UniProtKB/TrEMBL
      A0A7P0TB55, B4DJE7
      Related
      ENSP00000506598.1, ENST00000679687.1
      Conserved Domains (2) summary
      COG1960
      Location:1 → 231
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
      cl09933
      Location:1 → 229
      ACAD; Acyl-CoA dehydrogenase

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      75724709..75763679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      75561369..75600339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_022013.1: Suppressed sequence

      Description
      NR_022013.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11310.1 GenPept UniProtKB/Swiss-Prot:P11310

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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