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This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]
ACADS (Acyl-CoA Dehydrogenase Short Chain) is a Protein Coding gene. Diseases associated with ACADS include Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of and Muscular Lipidosis. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and fatty-acyl-CoA binding. An important paralog of this gene is ACADSB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003995 | acyl-CoA dehydrogenase activity | IDA | 3597357 |
GO:0004085 | butyryl-CoA dehydrogenase activity | IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016627 | oxidoreductase activity, acting on the CH-CH group of donors | IEA | -- |
GO:0050660 | flavin adenine dinucleotide binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IDA | 16729965 |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mitochondrial Fatty Acid Beta-Oxidation | ||
2 | Metabolism |
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3 | Fatty Acyl-CoA Biosynthesis | ||
4 | Mitochondrial LC-Fatty Acid Beta-Oxidation | ||
5 | beta-Alanine metabolism (KEGG) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0006635 | fatty acid beta-oxidation | TAS | -- |
GO:0033539 | fatty acid beta-oxidation using acyl-CoA dehydrogenase | IDA | 3597357 |
GO:0046359 | butyrate catabolic process | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
FAD | Approved | Pharma | Target | 0 | ||
NADH | Approved | Nutra | Target | 0 | ||
Gimeracil | Approved | Pharma | Dihydropyrimidine dehydrogenase inhibitor | 0 | ||
Mycophenolate mofetil | Approved, Investigational | Pharma | IMPDH inhibitor | 0 | ||
Stiripentol | Approved | Pharma | An LDH inhibitor | 11 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(2E)-Decenoyl-CoA |
|
10018-95-8 |
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|||
(2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
(2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
(2E)-Octenoyl-CoA |
|
10018-94-7 |
|
|||
(2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
|
Compound | Action | Cas Number |
---|---|---|
AGI-6780 | IDH2/R140Q mutation inhibitor | 1432660-47-3 |
CPI-613 | PDH/α-KGDH inhibitor | 95809-78-2 |
Gimeracil | Dihydropyrimidine dehydrogenase inhibitor | 103766-25-2 |
Isosafrole | A stiripentol analog, a potent LDH inhibitor. | 120-58-1 |
Mycophenolate Mofetil | IMPDH inhibitor | 128794-94-5 |
Stiripentol | An LDH inhibitor | 49763-96-4 |
Trilostane | 13647-35-3 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ACADS 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | ACADS 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | ACADS 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | ACADS 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Acads 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Acads 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | ACADS 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ACADS 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | ACADS 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | acads 32 |
|
||
MGC76107 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | acads-prov 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | acads 33 32 |
|
OneToOne | |
wufc44c01 32 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8763 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Arc42 33 34 32 |
|
OneToMany | |
CG4860 33 34 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001951 32 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | C37A2.3 34 |
|
|
|
C02D5.1 34 |
|
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acdh-5 33 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6600 33 |
|
ManyToMany | |
Cin.6004 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.6004 32 |
|
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1035363801 | uncertain-significance, Deficiency of butyryl-CoA dehydrogenase | 120,737,089(+) | T/A | coding_sequence_variant, missense_variant | |
rs1057516231 | likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase | 120,737,835(+) | A/G | intron_variant, splice_acceptor_variant | |
rs1057516385 | likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase | 120,737,090(+) | C/ | coding_sequence_variant, frameshift | |
rs1057516421 | likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase | 120,739,373(+) | TG/ | coding_sequence_variant, frameshift | |
rs1057516436 | likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase | 120,738,327(+) | GGGG/GGGGG | coding_sequence_variant, frameshift |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1004916 | CNV | deletion | 20482838 |
esv1488435 | CNV | deletion | 17803354 |
esv2746476 | CNV | deletion | 23290073 |
esv2746477 | CNV | deletion | 23290073 |
esv3168645 | CNV | deletion | 24192839 |
esv3630931 | CNV | loss | 21293372 |
nsv521928 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
acyl-coa dehydrogenase, short-chain, deficiency of |
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muscular lipidosis |
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encephalopathy, ethylmalonic |
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diverticulitis of colon |
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of |
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