Gene Symbol | ACAD9 |
Entrez Gene ID | 28976 |
Full Name | acyl-CoA dehydrogenase family member 9 |
Synonyms | NPD002 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) |