Aliases for PGAP3 Gene
External Ids for PGAP3 Gene
Previous HGNC Symbols for PGAP3 Gene
Previous GeneCards Identifiers for PGAP3 Gene
This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
GeneCards Summary for PGAP3 Gene
PGAP3 (Post-GPI Attachment To Proteins 3) is a Protein Coding gene. Diseases associated with PGAP3 include Hyperphosphatasia With Mental Retardation Syndrome 4 and Hyperphosphatasia-Intellectual Disability Syndrome. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on ester bonds.
UniProtKB/Swiss-Prot for PGAP3 Gene
Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable).