Gene: PGAP3
Alternate names for this Gene: AGLA546|CAB2|PERLD1|PP1498|hCOS16
Gene Summary: 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.
Gene is located in Chromosome: 17
Location in Chromosome : 17q12
Description of this Gene: post-GPI attachment to proteins phospholipase 3
Type of Gene: protein-coding