rs104893661
This is a stop gained variant in the PEX13 gene.
▶ClinVar annotation
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]
View all PEX13 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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