rs371266088

This variant is located in the PEX13 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
1 submitter4 publications

Peroxisome biogenesis disorder 11A (Zellweger)

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About PEX13

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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