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Aliases for ACADM Gene

Aliases for ACADM Gene

  • Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain 2 3
  • Acyl-Coenzyme A Dehydrogenase, C-4 To C-12 Straight Chain 2 3
  • MCAD 3 4
  • EC 1.3.99.3 63
  • EC 1.3.8.7 4
  • EC 1.3.99 63
  • ACAD1 3
  • MCADH 3

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, 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 acyl-coa dehydrogenase, medium chain, deficiency of. Among its related pathways are Metabolism and Carbon metabolism. 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 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

Regulatory Elements for ACADM Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ACADM Gene

Chromosome:
1
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

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.
  • Ubiquitination at Lys 395
  • Modification sites at PhosphoSitePlus

Domains & Families for ACADM Gene

Gene Families for ACADM Gene

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

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:0000062 fatty-acyl-CoA binding IBA --
GO:0003995 acyl-CoA dehydrogenase activity TAS --
GO:0009055 electron carrier activity IBA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0016853 isomerase activity --
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:

Animal Model Products

CRISPR Products

miRNA for ACADM Gene

miRTarBase miRNAs that target ACADM

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACADM

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for ACADM Gene COMPARTMENTS Subcellular localization image for ACADM gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
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:0005777 NOT peroxisome IBA --
GO:0030424 axon IDA 21237683
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

PCR Array Products

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

No data available for SIGNOR curated interactions for ACADM Gene

Drugs & Compounds for ACADM Gene

(19) Drugs for ACADM Gene - From: HMDB, NovoSeek, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Chloramphenicol Approved Pharma 6
Valproic Acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 302
Adenine Approved Nutra 0
Riboflavin Approved Nutra 138

(67) Additional Compounds for ACADM Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
octanoyl-coa
  • Capryloyl-CoA
  • Capryloyl-Coenzyme A
  • Octanoyl-CoA
  • 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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

Unigene Clusters for ACADM Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACADM

Flow Cytometry Products

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 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, PaxDb, MOPED, and MaxQB for ACADM Gene



SOURCE GeneReport for Unigene cluster for ACADM Gene Hs.445040

genes like me logo Genes that share expression patterns with ACADM: view

Protein tissue co-expression partners for ACADM Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ACADM 35
  • 90.63 (n)
  • 90.95 (a)
ACADM 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACADM 35
  • 90.81 (n)
  • 90.98 (a)
ACADM 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acadm 35
  • 82.5 (n)
  • 87.89 (a)
Acadm 16
Acadm 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACADM 35
  • 99.6 (n)
  • 99.52 (a)
ACADM 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acadm 35
  • 81.79 (n)
  • 86.22 (a)
oppossum
(Monodelphis domestica)
Mammalia ACADM 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACADM 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNG11 36
  • 27 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia ACADM 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acadm 35
  • 75.83 (n)
  • 83.94 (a)
Str.7172 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.23817 35
zebrafish
(Danio rerio)
Actinopterygii acadm 35
  • 75.3 (n)
  • 84.72 (a)
Dr.7343 35
acadm 36
  • 79 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9778 35
fruit fly
(Drosophila melanogaster)
Insecta CG12262 37
  • 69 (a)
CG12262 35
  • 61.63 (n)
  • 70.79 (a)
CG12262 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005662 35
  • 59.74 (n)
  • 70.91 (a)
worm
(Caenorhabditis elegans)
Secernentea C02D5.1 37
  • 29 (a)
C37A2.3 37
  • 29 (a)
K05F1.3 37
  • 61 (a)
T08G2.3 37
  • 64 (a)
T25G12.5 37
  • 63 (a)
acdh-8 35
  • 62.31 (n)
  • 60.3 (a)
acdh-10 36
  • 59 (a)
OneToMany
acdh-7 36
  • 59 (a)
OneToMany
acdh-8 36
  • 58 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs8763 -- 75,763,435(+) CACAA(C/T)CTCAT utr-variant-3-prime
rs767579 -- 75,762,442(-) AAAAT(A/C)TAAAA intron-variant
rs1061337 Benign 75,761,337(+) CCTGT(A/G)GAAAA reference, synonymous-codon
rs1146572 -- 75,728,621(+) AGATA(A/G)TTTAC intron-variant
rs1146574 -- 75,736,986(-) CAGTA(C/T)TGTTA 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

Variation tolerance for ACADM Gene

Residual Variation Intolerance Score: 45.24% 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)

Relevant External Links for ACADM Gene

HapMap Linkage Disequilibrium report
ACADM
Human Gene Mutation Database (HGMD)
ACADM

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

Disorders for ACADM Gene

MalaCards: The human disease database

(26) MalaCards diseases for ACADM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

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.

Genatlas disease for ACADM Gene

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

Relevant External Links for ACADM

Genetic Association Database (GAD)
ACADM
Human Genome Epidemiology (HuGE) Navigator
ACADM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACADM
genes like me logo Genes that share disorders with ACADM: view

Publications for ACADM Gene

  1. Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. (PMID: 20036593) Arnold G.L. … Caggana M. (Mol. Genet. Metab. 2010) 23 67
  2. Analysis of hepatic genes involved in the metabolism of fatty acids and iron in nonalcoholic fatty liver disease. (PMID: 19054139) Mitsuyoshi H. … Yoshikawa T. (Hepatol. Res. 2009) 23 67
  3. Mutation screening of the medium-chain acyl-CoA dehydrogenase (MCAD) and the ornithine transcarbamylase (OTC) genes by multiplex PCR amplification and sequencing. (PMID: 19055470) Horn M.P. … LargiadA"r C.R. (Clin. Chem. Lab. Med. 2009) 23 67
  4. Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain. (PMID: 19428797) Schuck P.F. … Wajner M. (Neurochem. Int. 2009) 23 67
  5. A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil. (PMID: 19551636) Ferreira A.C. … Godard A.L. (Genet. Mol. Res. 2009) 23 67

Products for ACADM Gene

Sources for ACADM Gene

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