Aliases for PEX12 Gene
External Ids for PEX12 Gene
Previous GeneCards Identifiers for PEX12 Gene
This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
GeneCards Summary for PEX12 Gene
PEX12 (Peroxisomal Biogenesis Factor 12) is a Protein Coding gene. Diseases associated with PEX12 include Peroxisome Biogenesis Disorder 3A and Peroxisome Biogenesis Disorder 3B. Among its related pathways are Peroxisome. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding.
UniProtKB/Swiss-Prot Summary for PEX12 Gene
Required for protein import into peroxisomes.