Gene Symbol | ACOX2 |
Entrez Gene ID | 8309 |
Full Name | acyl-CoA oxidase 2 |
Synonyms | BCOX,BRCACOX,BRCOX,CBAS6,THCCox |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 2009]. |
Disorder MIM: | |
Disorder Html: | Bile acid synthesis defect, congenital, 6, 617308 (3) |