ACADS - acyl-CoA dehydrogenase short chain Gene
Also Known as SCAD; ACAD3
Species: Homo sapiens
About ACADS
This gene has 3 transcripts (splice variants), 212 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in duodenum (RPKM 34.4), fat (RPKM 33.7) and 25 other tissues.
Summary
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 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000017.4 | NP_000008.1 | short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor |
| NM_001302554.2 | NP_001289483.1 | short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables acyl-CoA dehydrogenase activity |
IDA
IDA: Inferred from direct assay
|
3597357 | GOA |
| enables acyl-CoA dehydrogenase activity |
IMP
IMP: Inferred from mutant phenotype
|
11134486 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase |
IDA
IDA: Inferred from direct assay
|
3597357 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
16729965 | GOA |
ACADS Protein Structure
Acyl-CoA_dh_N: Acyl-CoA dehydrogenase, N-terminal domain (36 - 147)
Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (151 - 202)
Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (258 - 406)
- 0
- 100
- 200
- 300
- 412 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
short-chain specific acyl-CoA dehydrogenase, mitochondrial |
|
ACADS Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ACADS | P16219 | DPEP1 | Homo sapiens | P16444 | 33961781 | |
|
Intra
|
ACADS | P16219 | DPEP1 | Homo sapiens | P16444 | 28514442 |
ACADS Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82224 | ACADS Antibody (YA1969) | WB, IHC-P, IP | Human, Mouse, Rat |
| HY-P82224A | ACADS Antibody (YA1969)(PBS only) | WB, IHC-P, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
|
| Encephalopathy, Ethylmalonic |
|
|
| Muscular Lipidosis |
|
|
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
|
| Organic Acidemia |
|
|
| Isovaleric Acidemia |
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
|
| Riboflavin Deficiency |
|
|
| Carnitine Deficiency, Systemic Primary |
|
|
| Myopathy |
|
|
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
|
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
|
| Diverticulitis Of Colon |
|
|
| Ischemic Colitis |
|
|
| Spinocerebellar Ataxia, X-Linked 2 |
|
|
| Mitochondrial Trifunctional Protein Deficiency |
|
|
| Nuclear Type Mitochondrial Complex I Deficiency |
|
|
| Carnitine Palmitoyltransferase I Deficiency |
|
|
| Galactosemia I |
|
|
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
|
| Citrullinemia, Classic |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
|
| Diverticulitis |
|
|
| Biotinidase Deficiency |
|
|
| Carnitine-Acylcarnitine Translocase Deficiency |
|
|
| Fazio-Londe Disease |
|
|
| Diversion Colitis |
|
|
| Malignant Hyperthermia |
|
|
| Multiple Carboxylase Deficiency |
|
|
| Glutaric Acidemia I |
|
|
| Hypermethioninemia |
|
|
| Alpha-Methylacetoacetic Aciduria |
|
|
| Propionic Acidemia |
|
|
| Urea Cycle Disorder |
|
|
| Maple Syrup Urine Disease |
|
|
| Methylmalonic Acidemia |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Prader-Willi Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | ACADS | VGNC | VGNC:52915 |
| Rattus norvegicus | ACADS | RGD | RGD:620514 |
| Mus musculus | ACADS | MGD | MGI:87868 |
| Bos taurus | ACADS | VGNC | VGNC:53886 |
| Felis catus | ACADS | VGNC | VGNC:80418 |
| Macaca mulatta | ACADS | VGNC | VGNC:81342 |
| Others | ACADS | NCBI |