Acyl Coenzyme A Oxidase 2, Branched (ACOX2)

THCCox; BRCOX; 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase; Trihydroxycoprostanoyl-CoA oxidase; Peroxisomal acyl-coenzyme A oxidase 2

SPN	T118
HGNC	120
MGI	1934852
PubMed	21343950
RGD	628684
UniProt	Q99424

ACOX2 is 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.Peroxisomes in human liver contain 2 distinct acyl-CoA oxidases with different substrate specificities: palmitoyl-CoA oxidase, oxidizing very long straight-chain fatty acids and eicosanoids, and a branched-chain acyl-CoA oxidase, involved in the degradation of long branched fatty acids and bile acid intermediates. The accumulation of branched fatty acids and bile acid intermediates leads to severe mental retardation and death of affected children.

Reference

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Proc. Natl. Acad. Sci. U.S.A. 93:13748-13753(1996) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence, annotation and analysis of human chromosome 3."
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]