ACOX2 (NP_003491, 582 a.a. ~ 681 a.a) partial recombinant protein with GST tag. The sequence is HGILTNSGDFLHDAFLSGAQVDMARTAYLDLLRLIRKDAILLTDAFDFTDQCLNSALGCY DGNVYERLFQWAQKSPTNTQENPAYEEYIRPLLQSWRSKL
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.
Pathway
Beta-oxidation of pristanoyl-CoA; Bile acid biosynthesis, cholesterol => Bile acid biosynthesis, cholesterol => Metabolism
Citations
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