rs1576982727
This variant is located in the ACOX2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout ACOX2
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]
View all ACOX2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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