Post-GPI Attachment To Proteins 3

Alternative Names

  • PGAP3
  • PER1-Like Domain-Containing Protein 1
  • PERLD1
  • Gene Coamplified With ERBB2
  • CAB2
  • MGC9753
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OMIM Number

611801

NCBI Gene ID

93210

Uniprot ID

Q96FM1

Length

25,676 bases

No. of Exons

8

No. of isoforms

3

Protein Name

Post-GPI attachment to proteins factor 3

Molecular Mass

36475 Da

Amino Acid Count

320

Genomic Location

chr17:39,671,122-39,696,797

Gene Map Locus
17q12

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_033419.5:c.203delLebanonchr17:39685998PathogenicHyperphosphatasia with mental retardation syndrome 4 NG_034125.1:g.7073del; NM_033419.5:c.203del; NP_219487.3:p.Cys68Leufs
NM_033419.5:c.850C>TSaudi ArabiaNC_000017.11:g.39673100G>ALikely Pathogenic, PathogenicPathogenicHyperphosphatasia with mental retardation syndrome 4 NG_034125.1:g.19971C>T; NM_033419.5:c.850C>T; NP_219487.3:p.His284Tyr759541820800935
NM_033419.5:c.851A>GUnited Arab EmiratesNC_000017.11:g.39673099T>CPathogenicPathogenicHyperphosphatasia with mental retardation syndrome 4 NG_034125.1:g.19972A>G; NM_033419.5:c.851A>G; NP_219487.3:p.His284Arg776720232599004
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