Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ACADM Gene

Aliases for ACADM Gene

  • Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain 2 3
  • MCAD 3 4 6
  • Acyl-Coenzyme A Dehydrogenase, C-4 To C-12 Straight Chain 2 3
  • Medium-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3
  • EC 1.3.99.3 64
  • EC 1.3.8.7 4
  • EC 1.3.99 64
  • ACAD1 3
  • MCADH 3

External Ids for ACADM Gene

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, C-4 To C-12 Straight Chain) is a Protein Coding gene. Diseases associated with ACADM include medium-chain acyl-coenzyme a dehydrogenase deficiency and fasting hypoglycemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include identical protein binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACAD8.

UniProtKB/Swiss-Prot for ACADM Gene

  • This enzyme is specific for acyl chain lengths of 4 to 16

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACADM Gene

Genomics for ACADM Gene

Genomic Location for ACADM Gene

Start:
75,724,347 bp from pter
End:
75,787,575 bp from pter
Size:
63,229 bases
Orientation:
Plus strand

Genomic View for ACADM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACADM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACADM Gene

Regulatory Elements 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. Interacts with the heterodimeric electron transfer flavoprotein ETF.
    Miscellaneous:
    • A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues
    • Utilizes the electron transfer flavoprotein (ETF) as electron acceptor that transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)

    Three dimensional structures from OCA and Proteopedia for ACADM Gene

    Alternative splice isoforms for ACADM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACADM Gene

Proteomics data for ACADM Gene at MOPED

Post-translational modifications for ACADM Gene

  • Acetylation at Lys-307 and Lys-311 in proximity of the cofactor-binding sites reduces catalytic activity (By similarity). These sites are deacetylated by SIRT3.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys395

Domains for ACADM Gene

UniProtKB/Swiss-Prot:

ACADM_HUMAN
Family:
  • Belongs to the acyl-CoA dehydrogenase family.:
    • P11310
genes like me logo Genes that share domains with ACADM: view

No data available for Gene Families for ACADM Gene

Function for ACADM Gene

Molecular function for ACADM Gene

GENATLAS Biochemistry: acyl-CoA dehydrogenase,medium chain (C6-C12),mitochondrial,fatty acid beta-oxidation
UniProtKB/Swiss-Prot CatalyticActivity: A medium-chain acyl-CoA + electron-transfer flavoprotein = a medium-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein
UniProtKB/Swiss-Prot Function: This enzyme is specific for acyl chain lengths of 4 to 16

Enzyme Numbers (IUBMB) 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 TAS --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0042802 identical protein binding IDA 19224950
GO:0050660 flavin adenine dinucleotide binding IEA --
GO:0070991 medium-chain-acyl-CoA dehydrogenase activity IDA 1902818
genes like me logo Genes that share ontologies with ACADM: view
genes like me logo Genes that share phenotypes with ACADM: view

Animal Models for ACADM Gene

MGI Knock Outs for ACADM:

miRNA for ACADM Gene

miRTarBase miRNAs that target ACADM

No data available for Transcription Factor Targeting 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
Jensen Localization Image for ACADM Gene COMPARTMENTS Subcellular localization image for ACADM gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for ACADM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0030424 axon IDA 21237683
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ACADM: view

Pathways 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

Gene Ontology (GO) - Biological Process for ACADM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development --
GO:0005978 glycogen biosynthetic process --
GO:0006082 organic acid metabolic process --
GO:0006111 regulation of gluconeogenesis --
GO:0006635 fatty acid beta-oxidation TAS --
genes like me logo Genes that share ontologies with ACADM: view

Compounds for ACADM Gene

(39) HMDB Compounds for ACADM Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(3) Drugbank Compounds for ACADM Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3-Thiaoctanoyl-Coenzyme A
target
Flavin-Adenine Dinucleotide
146-14-5 target
Octanoyl-Coenzyme A
target

(43) Novoseek inferred chemical compound relationships for ACADM Gene

Compound -log(P) Hits PubMed IDs
acyl-coa 97.3 133
cis-4-decenoic acid 95.6 4
octanoylcarnitine 95.5 16
3-phenylpropionylglycine 94.6 7
suberylglycine 94.1 1
genes like me logo Genes that share compounds with ACADM: view

Transcripts for ACADM Gene

Unigene Clusters for ACADM Gene

Acyl-CoA dehydrogenase, C-4 to C-12 straight chain:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ACADM

Expression for ACADM Gene

mRNA expression in normal human tissues for ACADM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (4.9) and Heart - Left Ventricle (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACADM Gene

SOURCE GeneReport for Unigene cluster for ACADM Gene Hs.445040

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

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 36
  • 99.6 (n)
  • 99.52 (a)
ACADM 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACADM 36
  • 90.63 (n)
  • 90.95 (a)
ACADM 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACADM 36
  • 90.81 (n)
  • 90.98 (a)
ACADM 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acadm 36
  • 82.5 (n)
  • 87.89 (a)
Acadm 16
Acadm 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACADM 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACADM 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acadm 36
  • 81.79 (n)
  • 86.22 (a)
chicken
(Gallus gallus)
Aves GNG11 37
  • 27 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia ACADM 37
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23817 36
tropical clawed frog
(Silurana tropicalis)
Amphibia acadm 36
  • 75.83 (n)
  • 83.94 (a)
Str.7172 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9778 36
zebrafish
(Danio rerio)
Actinopterygii acadm 36
  • 75.3 (n)
  • 84.72 (a)
acadm 37
  • 79 (a)
OneToOne
Dr.7343 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005662 36
  • 59.74 (n)
  • 70.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12262 36
  • 61.63 (n)
  • 70.79 (a)
CG12262 37
  • 68 (a)
OneToOne
CG12262 38
  • 69 (a)
worm
(Caenorhabditis elegans)
Secernentea acdh-10 37
  • 59 (a)
OneToMany
acdh-7 37
  • 59 (a)
OneToMany
acdh-8 36
  • 62.31 (n)
  • 60.3 (a)
acdh-8 37
  • 58 (a)
OneToMany
C02D5.1 38
  • 29 (a)
T25G12.5 38
  • 63 (a)
C37A2.3 38
  • 29 (a)
K05F1.3 38
  • 61 (a)
T08G2.3 38
  • 64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 61 (a)
OneToOne
Species with no ortholog for ACADM:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ACADM Gene

Paralogs for ACADM Gene

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

Variants for ACADM Gene

Sequence variations from dbSNP and Humsavar for ACADM Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1061337 Benign 75,761,337(+) CCTGT(A/G)GAAAA reference, synonymous-codon
rs1146576 -- 75,738,033(-) aggct(A/G)aggca intron-variant
rs1146578 -- 75,742,803(+) GCTCT(A/C/G/T)TCCTC intron-variant
rs1146579 -- 75,744,107(-) ACATC(A/C/G/T)GGAGA intron-variant
rs1146581 -- 75,747,339(-) AATAG(A/C)TAGAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv519329 CNV Gain 19592680
nsv870520 CNV Loss 21882294
nsv830281 CNV Loss 17160897
nsv871572 CNV Gain 21882294

Relevant External Links for ACADM Gene

HapMap Linkage Disequilibrium report
ACADM
Human Gene Mutation Database (HGMD)
ACADM
Locus Specific Mutation Databases (LSDB)
ACADM

Disorders for ACADM Gene

(1) OMIM Diseases for ACADM Gene (607008)

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: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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(28) Novoseek inferred disease relationships for ACADM Gene

Disease -log(P) Hits PubMed IDs
mcad deficiency 99.5 339
scad deficiency 87.5 2
reye-like syndrome 76.9 3
reye syndrome 73.7 6
sudden infant death syndrome 73.5 18

Genatlas disease for ACADM Gene

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

Relevant External Links for ACADM

GeneTests
ACADM
GeneReviews
ACADM
Genetic Association Database (GAD)
ACADM
Human Genome Epidemiology (HuGE) Navigator
ACADM
genes like me logo Genes that share disorders with ACADM: view

Publications for ACADM Gene

  1. 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 B.S. … Gregersen N. (Am. J. Hum. Genet. 2001) 3 4 23 49
  2. Molecular and functional characterization of mild MCAD deficiency. (PMID: 11409868) Zschocke J. … Mayatepek E. (Hum. Genet. 2001) 3 4 23
  3. Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype? (PMID: 14970748) Lehotay D.C. … Rockman-Greenberg C. (J. Inherit. Metab. Dis. 2004) 3 23 49
  4. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. (PMID: 15832312) Maier E.M. … Roscher A.A. (Hum. Mutat. 2005) 3 23 49
  5. Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation. (PMID: 15902558) Blois B. … Dyack S. (J. Inherit. Metab. Dis. 2005) 3 23 49

Products for ACADM Gene

Sources for ACADM Gene

Back to Top

Content