HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PIGW
phosphatidylinositol glycan anchor biosynthesis class W
Chromosome 17 Β· 17q12
NCBI Gene: 284098Ensembl: ENSG00000275600.2HGNC: HGNC:23213UniProt: Q7Z7B1
18PubMed Papers
1Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein localization to plasma membraneendoplasmic reticulum membraneglucosaminyl-phosphatidylinositol O-acyltransferase activityendoplasmic reticulumGlycosylphosphatidylinositol biosynthesis defect 11
✦AI Summary

PIGW (phosphatidylinositol glycan anchor biosynthesis class W) encodes an acyltransferase that catalyzes acyl transfer during glycosylphosphatidylinositol (GPI) anchor biosynthesis, specifically the attachment of acyl groups to the inositol ring of glucosaminyl phosphatidylinositol 1. This acylation is essential for the transport of GPI-anchored proteins to the plasma membrane 1. Biallelic PIGW mutations cause glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11), also known as hyperphosphatasia with mental retardation syndrome 23. GPIBD11 is a severe multisystemic disorder characterized by developmental delay, early-onset seizures (commonly epileptic spasms), intellectual disability, distinctive facial features, recurrent respiratory infections, and elevated serum alkaline phosphatase 43. Additional manifestations include cardiac anomalies, neurological abnormalities, and multiple organ involvement affecting skeletal and genitourinary systems, with variable severity ranging from prenatal lethality to atypical milder phenotypes 456. Flow cytometry demonstrates significantly reduced GPI-anchored protein expression in patient blood samples 5. The disorder requires complex multidisciplinary management with uncertain long-term prognosis 4.

Sources cited
1
PIGW is required for the transport of GPI-anchored proteins to the plasma membrane
PMID: 24367057
2
PIGW mutations cause hyperphosphatasia with mental retardation syndrome characterized by seizures, intellectual disability, and recurrent infections
PMID: 30813920
3
PIGW deficiency presents with refractory epilepsy, severe intellectual disability, recurrent respiratory infections, hyperphosphatasia, and elevated alkaline phosphatase levels
PMID: 38055078
4
PIGW-related GPIBD11 is a severe multisystemic condition affecting multiple organs including the heart, with complex management needs and uncertain prognosis
PMID: 39766333
5
PIGW mutations cause variable clinical features with reduced GPI-anchored protein expression measurable by flow cytometry, ranging from classic to atypical phenotypes
PMID: 40239339
6
PIGW variants are associated with prenatal findings including brain malformations, skeletal and genitourinary anomalies
PMID: 35788948
Disease Associationsβ“˜1
Glycosylphosphatidylinositol biosynthesis defect 11UniProt
Pathogenic Variants6
NM_001346754.2(PIGW):c.460A>G (p.Arg154Gly)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 5|not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 154
NM_001346754.2(PIGW):c.1321_1324del (p.Ile441fs)Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 5
β˜…β˜†β˜†β˜†2019β†’ Residue 441
NM_001346754.2(PIGW):c.178G>A (p.Asp60Asn)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 5
β˜†β˜†β˜†β˜†2022β†’ Residue 60
NM_001346754.2(PIGW):c.462A>T (p.Arg154Ser)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 5
β˜†β˜†β˜†β˜†2022β†’ Residue 154
NM_001346754.2(PIGW):c.77T>C (p.Leu26Ser)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 5
β˜†β˜†β˜†β˜†2022β†’ Residue 26
NM_001346754.2(PIGW):c.211A>C (p.Thr71Pro)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 5
β˜†β˜†β˜†β˜†2014β†’ Residue 71
View on ClinVar β†—
Related Genes
GPLD1Protein interaction99%PGAP2Protein interaction99%PGAP3Protein interaction99%PIGAProtein interaction83%PIGCProtein interaction83%PIGHProtein interaction83%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
PIGWGPLD1PGAP2PGAP3PIGAPIGCPIGH
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7Z7B1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.45–0.88]
RankingsWhere PIGW stands among ~20K protein-coding genes
  • #14,774of 20,598
    Most Researched18
  • #3,446of 5,498
    Most Pathogenic Variants6
  • #7,825of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedPIGW
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
In-Depth Phenotyping of
PMID: 39766333
Biomolecules Β· 2024
1.00
2
Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.
PMID: 30813920
BMC Pediatr Β· 2019
0.90
3
PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review.
PMID: 38055078
Neurol Sci Β· 2024
0.80
4
Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW.
PMID: 40239339
Pediatr Neurol Β· 2025
0.70
5
What is new in CDG?
PMID: 28484880
J Inherit Metab Dis Β· 2017
0.60