rs2487449927

This variant is located in the PEX2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Peroxisome biogenesis disorder 5A (Zellweger)

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About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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