Aliases for PEX2 Gene
External Ids for PEX2 Gene
Previous HGNC Symbols for PEX2 Gene
Previous GeneCards Identifiers for PEX2 Gene
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]
GeneCards Summary for PEX2 Gene
PEX2 (Peroxisomal Biogenesis Factor 2) is a Protein Coding gene. Diseases associated with PEX2 include Peroxisome Biogenesis Disorder 5B and Peroxisome Biogenesis Disorder 5A. Among its related pathways are Peroxisome.
UniProtKB/Swiss-Prot Summary for PEX2 Gene
Somewhat implicated in the biogenesis of peroxisomes.