PGAP3 gene

post-GPI attachment to proteins 3

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Hyperphosphatasia with mental retardation syndrome 4

From UniProt:

Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4): An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase. [MIM:615716]

Cytogenetic Location: 17q12, which is the long (q) arm of chromosome 17 at position 12

Molecular Location: base pairs 39,671,122 to 39,688,070 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q12, which is the long (q) arm of chromosome 17 at position 12
  • AGLA546
  • CAB2
  • hCOS16
  • PERLD1
  • PP1498