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 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]

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