ACADS Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ACADS |
| Official Name | acyl-CoA dehydrogenase short chain [Source:HGNC Symbol;Acc:HGNC:90] |
| Ensembl ID | ENSG00000122971 |
| Bio databases IDs | |
| Aliases | acyl-CoA dehydrogenase short chain |
| Synonyms | ACAD3, acyl-CoA dehydrogenase short chain, ACYL-COENZYME A DEHYDROGENASE, acyl-Coenzyme A dehydrogenase, short chain, Bcd-1, Hdlq8, SCAD |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ACADS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- flavin adenine dinucleotide binding
- short branched-chain acyl-CoA dehydrogenase
- Acyl-CoA dehydrogenase, middle domain
- butyryl-CoA dehydrogenase
- enzyme
- protein binding
- identical protein binding
- FAD binding
- acyl-CoA dehydrogenase
- Acyl-CoA dehydrogenase, C-terminal domain
- acyl-CoA binding
- protein homodimerization
- Acyl-CoA dehydrogenase, N-terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin resistance
- obesity
- deficiency of butyryl-coa dehydrogenase
- colorectal cancer
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- hereditary disorder
- microvesicular hepatic steatosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- low-density microsomal fraction
- centrosome
- Mitochondria
- mitochondrial membrane
- mitochondrial matrix
- nucleoplasm
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACADS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fatty acid beta-oxidation
- fatty acid beta-oxidation using acyl-CoA dehydrogenase
- butyrate catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- mitochondrial matrix
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- acyl-CoA dehydrogenase activity
- flavin adenine dinucleotide binding
- butyryl-CoA dehydrogenase activity