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Immunogen sequence: MGSPVHRVSL GDTWSRQMHP DIESERYMQS FDVERLTNIL DGGAQNTALR RKVESIIHSY PEFSCKDNYF MTQN
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 mental retardation, and death in children.
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Protein Aliases: 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase; 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase; acyl-CoA oxidase 2, branched chain; acyl-Coenzyme A oxidase 2, branched chain; branched chain acyl-CoA oxidase; Peroxisomal acyl-coenzyme A oxidase 2; peroxisomal branched chain acyl-CoA oxidase; THCA-CoA oxidase; Trihydroxycoprostanoyl-CoA oxidase
Gene Aliases: ACOX2; BCOX; BRCACOX; BRCOX; THCCox
UniProt ID: (Human) Q99424
Entrez Gene ID: (Human) 8309
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