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Acyl-Coenzyme A oxidase 2, branched chain (ACOX2) encodes a peroxisomal protein with a calculated molecular weight of 76.7-kD with a C-terminal tripeptide of SKL (ser-lys-leu) a known peroxisomal targeting motif. ACOX2 is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of acyl-coenzyme A oxidase 2 results in the accumulation of branched fatty acids and bile acid intermediates leading to Zellweger syndrome, severe mental retardation and death in children.
Gene Name: | acyl-CoA oxidase 2, branched chain |
Synonyms: | ACOX2, BRCACOX, BRCOX, BCOX, THCCox, THCA-CoA oxidase |
Target Sequences: | NM_003500 NP_003491.1 Q99424 |
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