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 ... See more...

Aliases for ACADM Gene

Aliases for ACADM Gene

  • Acyl-CoA Dehydrogenase Medium Chain 2 3 5
  • MCADH 2 3 4
  • MCAD 2 3 4
  • Medium-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3 4
  • Acyl-Coenzyme A Dehydrogenase, C-4 To C-12 Straight Chain 2 3
  • Medium-Chain Acyl-CoA Dehydrogenase 2 3
  • ACAD1 2 3
  • Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain 3
  • Medium Chain Acyl-CoA Dehydrogenase 4
  • Testicular Tissue Protein Li 7 3
  • EC 1.3.99.3 50
  • EC 1.3.8.7 4
  • EC 1.3.99 50
  • ACADM 5

External Ids for ACADM Gene

Previous GeneCards Identifiers for ACADM Gene

  • GC01P076309
  • GC01P075125
  • GC01P075606
  • GC01P075612
  • GC01P075902
  • GC01P076190
  • GC01P074319

Summaries for ACADM Gene

Entrez Gene Summary for ACADM Gene

  • 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]

GeneCards Summary for ACADM Gene

ACADM (Acyl-CoA Dehydrogenase Medium Chain) is a Protein Coding gene. Diseases associated with ACADM include Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of and Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Among its related pathways are PPAR signaling pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and oxidoreductase activity, acting on the CH-CH group of donors. An important paralog of this gene is ACADS.

UniProtKB/Swiss-Prot Summary for ACADM Gene

  • Medium-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (PubMed:1970566, PubMed:8823175, PubMed:21237683, PubMed:2251268). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:2251268). Electron transfer flavoprotein (ETF) is the electron acceptor that transfers electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:25416781, PubMed:15159392). Among the different mitochondrial acyl-CoA dehydrogenases, medium-chain specific acyl-CoA dehydrogenase acts specifically on acyl-CoAs with saturated 6 to 12 carbons long primary chains (PubMed:1970566, PubMed:8823175, PubMed:21237683, PubMed:2251268).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACADM Gene

Genomics for ACADM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACADM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACADM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACADM

Top Transcription factor binding sites by QIAGEN in the ACADM gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for ACADM Gene

Latest Assembly
chr1:75,724,431-75,787,575
(GRCh38/hg38)
Size:
63,145 bases
Orientation:
Plus strand

Previous Assembly
chr1:76,190,394-76,229,364
(GRCh37/hg19 by Entrez Gene)
Size:
38,971 bases
Orientation:
Plus strand

chr1:76,190,036-76,253,260
(GRCh37/hg19 by Ensembl)
Size:
63,225 bases
Orientation:
Plus strand

Genomic View for ACADM Gene

Genes around ACADM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACADM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACADM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACADM Gene

Proteins for ACADM Gene

  • Protein details for ACADM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11310-ACADM_HUMAN
    Recommended name:
    Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P11310
    Secondary Accessions:
    • Q5T4U4
    • Q9NYF1

    Protein attributes for ACADM Gene

    Size:
    421 amino acids
    Molecular mass:
    46588 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer (PubMed:8823176, Ref.23). Interacts with the heterodimeric electron transfer flavoprotein ETF.

    Three dimensional structures from OCA and Proteopedia for ACADM Gene

    Alternative splice isoforms for ACADM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACADM Gene

Selected DME Specific Peptides for ACADM Gene

P11310:
  • INGQKMWITNGG
  • CGGLGLGTFDACLI
  • KKYLGRMTEEPLMCAYCVTEP
  • QKKKYLG
  • KMWITNG
  • AEKKGDE
  • TEPGAGSDV
  • TEQQKEFQATARKFAREEIIPVAAEYD
  • AWELGLMN
  • GFSFEFTEQQKEFQATARKFAREEIIP
  • EELAYGCTG
  • KAEKKGD
  • DIANQLATDAVQ
  • WRSQHTK
  • AAEYDKTGEYPVPLI
  • EPGLGFSFE
  • EYPVEKLMRDAKIYQIYEGT
  • TEPGAGSD
  • NMGQRCSDTR
  • DSGRRNTYYASIAKA

Post-translational modifications for ACADM Gene

  • Acetylated. Could occur at proximity of the cofactor-binding sites and reduce the catalytic activity. Could be deacetylated by SIRT3.
  • Ubiquitination at Lys395
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for ACADM

Domains & Families for ACADM Gene

Gene Families for ACADM Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACADM Gene

GenScript: Design optimal peptide antigens:
  • Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (ACADM_HUMAN)
  • cDNA FLJ52595, highly similar to Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (EC 1.3.99.3) (B4DJE7_HUMAN)
  • cDNA, FLJ78845, highly similar to Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (EC 1.3.99.3) (B7Z9I1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11310

UniProtKB/Swiss-Prot:

ACADM_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACADM: view

Function for ACADM Gene

Molecular function for ACADM Gene

UniProtKB/Swiss-Prot Function:
Medium-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (PubMed:1970566, PubMed:8823175, PubMed:21237683, PubMed:2251268). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:2251268). Electron transfer flavoprotein (ETF) is the electron acceptor that transfers electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:25416781, PubMed:15159392). Among the different mitochondrial acyl-CoA dehydrogenases, medium-chain specific acyl-CoA dehydrogenase acts specifically on acyl-CoAs with saturated 6 to 12 carbons long primary chains (PubMed:1970566, PubMed:8823175, PubMed:21237683, PubMed:2251268).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a medium-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a medium-chain trans-(2E)-enoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:14477, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:83723, ChEBI:CHEBI:83726; EC=1.3.8.7; Evidence={ECO:0000269|PubMed:1970566, ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxidized [electron-transfer flavoprotein] + pentanoyl-CoA = (2E)-pentenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43456, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57389, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:86160; Evidence={ECO:0000250|UniProtKB:P08503};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43464, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:62077, ChEBI:CHEBI:62620; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + octanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-octenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48180, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57386, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:62242; Evidence={ECO:0000269|PubMed:1970566, ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=decanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-decenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48176, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61406, ChEBI:CHEBI:61430; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dodecanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-dodecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47296, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57330, ChEBI:CHEBI:57375, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxidized [electron-transfer flavoprotein] + tetradecanoyl-CoA = (2E)-tetradecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47316, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57385, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61405; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexadecanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexadecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43448, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57379, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61526; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=175 uM for butyryl-CoA {ECO:0000269|PubMed:8823175}; KM=15 uM for hexanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=3.4 uM for octanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=2.5 uM for decanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=2.5 uM for dodecanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=2.3 uM for tetradecanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=1.6 uM for hexadecanoyl-CoA {ECO:0000269|PubMed:8823175};
GENATLAS Biochemistry:
acyl-CoA dehydrogenase,medium chain (C6-C12),mitochondrial,fatty acid beta-oxidation

Enzyme Numbers (IUBMB) for ACADM Gene

Phenotypes From GWAS Catalog for ACADM Gene

Gene Ontology (GO) - Molecular Function for ACADM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity IMP 2393404
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0042802 identical protein binding IDA 19224950
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with ACADM: view
genes like me logo Genes that share phenotypes with ACADM: view

Human Phenotype Ontology for ACADM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACADM Gene

MGI Knock Outs for ACADM:
  • Acadm Acadm<tm1Uab>
  • Acadm Acadm<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADM

No data available for Transcription Factor Targets and HOMER Transcription for ACADM Gene

Localization for ACADM Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADM Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACADM gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACADM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion TAS,IDA --
GO:0005759 mitochondrial matrix IDA,TAS --
GO:0030424 axon IDA 21237683
GO:0031966 mitochondrial membrane IDA 16020546
genes like me logo Genes that share ontologies with ACADM: view

Pathways & Interactions for ACADM Gene

genes like me logo Genes that share pathways with ACADM: view

UniProtKB/Swiss-Prot P11310-ACADM_HUMAN

  • Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation.

SIGNOR curated interactions for ACADM Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ACADM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0005978 glycogen biosynthetic process IEA --
GO:0006082 organic acid metabolic process IEA --
GO:0006111 regulation of gluconeogenesis IEA --
GO:0006629 lipid metabolic process IEA --
genes like me logo Genes that share ontologies with ACADM: view

Drugs & Compounds for ACADM Gene

(21) Drugs for ACADM Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
3-thiaoctanoyl-CoA Experimental Pharma Target 0
Octanoyl-Coenzyme A Experimental Pharma Target 0
Hexanoyl-CoA Experimental Pharma 0
Methacrylyl-CoA Experimental Pharma 0

(63) Additional Compounds for ACADM Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
octanoyl-coa
  • Capryloyl-CoA
  • Capryloyl-coenzyme A
  • Octanoyl-coenzyme A
1264-52-4
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • Dodecenoyl-CoA
  • Dodecenoyl+2-dodecenoyl, (e)-isomer
  • Dodecenoyl-coenzyme A
  • Dodecenoyl+2-dodecenoyl
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
genes like me logo Genes that share compounds with ACADM: view

Transcripts for ACADM Gene

mRNA/cDNA for ACADM Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
61 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADM

Alternative Splicing Database (ASD) splice patterns (SP) for ACADM Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13
SP1: - - - - - - -
SP2: - - - - - -
SP3: -
SP4:
SP5:
SP6: -
SP7: - -
SP8: - -

Relevant External Links for ACADM Gene

GeneLoc Exon Structure for
ACADM

Expression for ACADM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACADM Gene

mRNA differential expression in normal tissues according to GTEx for ACADM Gene

This gene is overexpressed in Muscle - Skeletal (x4.9) and Heart - Left Ventricle (x4.7).

Protein differential expression in normal tissues from HIPED for ACADM Gene

This gene is overexpressed in Heart (10.0), Kidney (9.5), and Liver (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACADM Gene



Protein tissue co-expression partners for ACADM Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACADM

SOURCE GeneReport for Unigene cluster for ACADM Gene:

Hs.445040

Evidence on tissue expression from TISSUES for ACADM Gene

  • Nervous system(4.9)
  • Heart(4.9)
  • Liver(4.7)
  • Intestine(4.6)
  • Kidney(3.8)
  • Muscle(3.4)
  • Blood(2.6)
  • Thyroid gland(2.5)
  • Stomach(2.5)
  • Pancreas(2.4)
  • Adrenal gland(2.3)
  • Skin(2.3)
  • Gall bladder(2.2)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACADM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • liver
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with ACADM: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ACADM Gene

Orthologs for ACADM Gene

This gene was present in the common ancestor of animals.

Orthologs for ACADM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACADM 29 30
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACADM 29 30
  • 90.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACADM 29 30
  • 90.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACADM 30
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Acadm 29 16 30
  • 82.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acadm 29
  • 81.79 (n)
Oppossum
(Monodelphis domestica)
Mammalia ACADM 30
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GNG11 30
  • 27 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia ACADM 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acadm 29
  • 75.83 (n)
Str.7172 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.23817 29
Zebrafish
(Danio rerio)
Actinopterygii acadm 29 30
  • 75.3 (n)
OneToOne
Dr.7343 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9778 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG12262 29 30 31
  • 61.63 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005662 29
  • 59.74 (n)
Worm
(Caenorhabditis elegans)
Secernentea T08G2.3 31
  • 64 (a)
T25G12.5 31
  • 63 (a)
acdh-8 29 30
  • 62.31 (n)
OneToMany
K05F1.3 31
  • 61 (a)
acdh-7 30
  • 59 (a)
OneToMany
acdh-10 30
  • 59 (a)
OneToMany
C02D5.1 31
  • 29 (a)
C37A2.3 31
  • 29 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 61 (a)
OneToOne
Species where no ortholog for ACADM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ACADM Gene

ENSEMBL:
Gene Tree for ACADM (if available)
TreeFam:
Gene Tree for ACADM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACADM: view image
Alliance of Genome Resources:
Additional Orthologs for ACADM

Paralogs for ACADM Gene

(9) SIMAP similar genes for ACADM Gene using alignment to 10 proteins:

  • ACADM_HUMAN
  • B4DJE7_HUMAN
  • B7Z9I1_HUMAN
  • E9PIX8_HUMAN
  • E9PJM9_HUMAN
  • E9PLN7_HUMAN
  • E9PQA8_HUMAN
  • E9PRX4_HUMAN
  • H0YDT5_HUMAN
  • Q5T4U5_HUMAN
genes like me logo Genes that share paralogs with ACADM: view

Variants for ACADM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACADM Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1014769 Uncertain Significance: Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,761,119(+) T/TA
NM_000016.6(ACADM):c.946-2dup
SPLICE_ACCEPTOR
1017585 Uncertain Significance: Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,733,620(+) T/C
NM_000016.6(ACADM):c.379T>C (p.Ser127Pro)
MISSENSE_VARIANT,INTRON
1024055 Uncertain Significance: Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,761,197(+) G/A
NM_000016.6(ACADM):c.1021G>A (p.Ala341Thr)
MISSENSE
203537 Pathogenic: Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,728,456(+) G/T
NM_001286042.1(ACADM):c.10+3639G>T
MISSENSE_VARIANT,INTRON
834525 Pathogenic: Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,761,148(+) T/TG
NM_000016.6(ACADM):c.973dup (p.Glu325fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ACADM Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ACADM Gene

Variant ID Type Subtype PubMed ID
esv3577968 CNV loss 25503493
nsv519329 CNV gain 19592680
nsv830281 CNV loss 17160897
nsv946000 CNV duplication 23825009

Variation tolerance for ACADM Gene

Residual Variation Intolerance Score: 45.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACADM Gene

Human Gene Mutation Database (HGMD)
ACADM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACADM
Leiden Open Variation Database (LOVD)
ACADM

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADM Gene

Disorders for ACADM Gene

MalaCards: The human disease database

(30) MalaCards diseases for ACADM Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search ACADM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACADM_HUMAN
  • Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]: An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy. {ECO:0000269 PubMed:10767181, ECO:0000269 PubMed:11349232, ECO:0000269 PubMed:11409868, ECO:0000269 PubMed:11486912, ECO:0000269 PubMed:1363805, ECO:0000269 PubMed:1671131, ECO:0000269 PubMed:1684086, ECO:0000269 PubMed:1902818, ECO:0000269 PubMed:2251268, ECO:0000269 PubMed:2393404, ECO:0000269 PubMed:2394825, ECO:0000269 PubMed:7603790, ECO:0000269 PubMed:7929823, ECO:0000269 PubMed:8198141, ECO:0000269 PubMed:9158144, ECO:0000269 PubMed:9882619}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for ACADM Gene

dicarboxylic aciduria,non ketotic hypoglycemia,Reye-like syndrome,sudden infant death syndrome

Additional Disease Information for ACADM

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ACADM: view

Publications for ACADM Gene

  1. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. (PMID: 15832312) Maier EM … Roscher AA (Human mutation 2005) 3 22 40 72
  2. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. (PMID: 11349232) Andresen BS … Gregersen N (American journal of human genetics 2001) 3 4 22 40
  3. Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. (PMID: 1684086) Yokota I … Tanaka K (American journal of human genetics 1991) 3 4 22 72
  4. A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. (PMID: 19649258) ter Veld F … Spiekerkoetter U (PloS one 2009) 3 22 40
  5. A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil. (PMID: 19551636) Ferreira AC … Godard AL (Genetics and molecular research : GMR 2009) 3 22 40

Products for ACADM Gene

Sources for ACADM Gene