rs1563605751
This variant is located in the PEX2 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitterAbout PEX2
This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
View all PEX2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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