Gene Symbol | ACAD8 |
Entrez Gene ID | 27034 |
Full Name | acyl-CoA dehydrogenase family member 8 |
Synonyms | ACAD-8,ARC42 |
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 of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]. |
Disorder MIM: | |
Disorder Html: | Isobutyryl-CoA dehydrogenase deficiency, 611283 (3) |