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 the autosomal recessive neurologic disorder hyperphosphatasia with mental retardation syndrome 4 (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]
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. 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).