Aliases for PEX19 Gene
External Ids for PEX19 Gene
Previous HGNC Symbols for PEX19 Gene
Previous GeneCards Identifiers for PEX19 Gene
This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). 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. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some 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), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
GeneCards Summary for PEX19 Gene
PEX19 (Peroxisomal Biogenesis Factor 19) is a Protein Coding gene. Diseases associated with PEX19 include Peroxisome Biogenesis Disorder 12A and Peroxisome Biogenesis Disorder 1B. Among its related pathways are Peroxisome and ABC-family proteins mediated transport. GO annotations related to this gene include protein N-terminus binding and peroxisome membrane class-1 targeting sequence binding.
UniProtKB/Swiss-Prot for PEX19 Gene
Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.