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

rs869312812 in PGAP3 gene and Abnormality of brain morphology PMID 27120253 2016 Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

rs1567871748 in PGAP3 gene and Abnormality of head or neck PMID 30217754 2019 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

rs2941505 in PGAP3 gene and Age at menopause PMID 26414677 2015 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12150298 in PGAP3 gene and Asthma PMID 20860503 2010 A large-scale, consortium-based genomewide association study of asthma.

rs1567871748 in PGAP3 gene and Congenital neurologic anomalies PMID 30217754 2019 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

rs1567871748 in PGAP3 gene and Growth abnormality PMID 30217754 2019 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

rs1567871748 in PGAP3 gene and HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 PMID 30217754 2019 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

PMID 24439110 2014 Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

PMID 27120253 2016 Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

rs2934956 in PGAP3 gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2934952 in PGAP3 gene and Triglycerides measurement PMID 30108155 2018 Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.