rs148057567

This variant is located in the PEX10 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Peroxisome biogenesis disorder, complementation group 7; Inborn genetic diseases

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About PEX10

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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