rs1393663701
This variant is located in the PEX1 gene.
▶ClinVar annotation
Heimler syndrome 1; Zellweger spectrum disorders; Peroxisome biogenesis disorder 1A (Zellweger);Heimler syndrome 1;Peroxisome biogenesis disorder 1B
View on ClinVar →About PEX1
This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
View all PEX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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