Aliases for PEX13 Gene
External Ids for PEX13 Gene
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]
GeneCards Summary for PEX13 Gene
PEX13 (Peroxisomal Biogenesis Factor 13) is a Protein Coding gene. Diseases associated with PEX13 include peroxisome biogenesis disorder 11b and peroxisome biogenesis disorder 11a. Among its related pathways are Peroxisome.
UniProtKB/Swiss-Prot for PEX13 Gene
Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins