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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.
PIGP
phosphatidylinositol glycan anchor biosynthesis class P
Chromosome 21 Β· 21q22.13
NCBI Gene: 51227Ensembl: ENSG00000185808.15HGNC: HGNC:3046UniProt: P57054
24PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phosphatidylinositol N-acetylglucosaminyltransferase activityprotein bindingGPI anchor biosynthetic processendoplasmic reticulum membranedevelopmental and epileptic encephalopathy, 55genetic developmental and epileptic encephalopathyearly-infantile DEEneurodegenerative disease
✦AI Summary

PIGP (phosphatidylinositol glycan anchor biosynthesis class P) is a subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex located on the endoplasmic reticulum membrane 1. It catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, catalyzing the first and essential step of GPI anchor biosynthesis 2. GPI anchors tether over 150 human proteins to the cell surface, which play critical roles in development and neurogenesis 1. PIGP mutations cause inherited GPI deficiencies, a subgroup of congenital disorders of glycosylation 1. Biallelic variants in PIGP result in developmental and epileptic encephalopathy 55, characterized by early-onset refractory seizures, hypotonia, and profound global developmental delay 31. A recent report expanded the phenotype to include multiple congenital anomalies, dysmorphic features, and severity sufficient to cause severe malformations in utero 4. Functional studies demonstrate that PIGP mutations reduce both mRNA levels and GPI-anchored cell surface proteins, which can be rescued by wild-type PIGP expression 1. Additionally, PIGP appears dysregulated in Kawasaki disease, showing diagnostic value for this pediatric vasculitis 5.

Sources cited
1
PIGP encodes a GPI-GnT subunit catalyzing the first step of GPI biosynthesis; mutations cause developmental and epileptic encephalopathy with seizures and developmental delay
PMID: 28334793
2
Homozygous PIGP frameshift mutation causes infantile seizures and developmental delay; flow cytometry confirms reduced GPI-anchored proteins
PMID: 31139695
3
Compound heterozygous PIGP variants expand phenotype to multiple congenital anomalies-hypotonia-seizures syndrome
PMID: 37125481
4
PIGP is a GPI-GnT subunit; deficiency decreases GPI synthesis and affects protein secretion and cell morphology
PMID: 19421754
5
PIGP is identified as an m6A-related hub gene with diagnostic value for Kawasaki disease
PMID: 39988181
Disease Associationsβ“˜21
developmental and epileptic encephalopathy, 55Open Targets
0.64Moderate
genetic developmental and epileptic encephalopathyOpen Targets
0.45Moderate
early-infantile DEEOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.32Weak
genetic disorderOpen Targets
0.19Weak
Multiple congenital anomalies - hypotonia - seizures syndromeOpen Targets
0.18Weak
multiple congenital anomalies-hypotonia-seizures syndromeOpen Targets
0.18Weak
developmental and epileptic encephalopathyOpen Targets
0.14Weak
eye colorOpen Targets
0.11Weak
type 2 diabetes mellitusOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
placenta praeviaOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
irritable bowel syndromeOpen Targets
0.03Suggestive
Dravet syndromeOpen Targets
0.02Suggestive
Down syndromeOpen Targets
0.01Suggestive
Epileptic encephalopathyOpen Targets
0.01Suggestive
keratitisOpen Targets
0.01Suggestive
HypotoniaOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
Developmental and epileptic encephalopathy 55UniProt
Pathogenic Variants2
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)Pathogenic
Developmental and epileptic encephalopathy|Developmental and epileptic encephalopathy, 55|not provided|See cases|PIGP-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_153682.3(PIGP):c.384del (p.Glu129fs)Pathogenic
Developmental and epileptic encephalopathy|Developmental and epileptic encephalopathy, 55|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 129
View on ClinVar β†—
Related Genes
PIGFShared pathway100%PIGNShared pathway100%PGAP2Shared pathway100%PGAP4Shared pathway100%PIGZShared pathway100%CWH43Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
98%
Liver
58%
Ovary
39%
Lung
34%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
PIGPPIGFPIGNPGAP2PGAP4PIGZCWH43
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P57054
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.56 [0.98–1.94]
RankingsWhere PIGP stands among ~20K protein-coding genes
  • #13,274of 20,598
    Most Researched24
  • #4,538of 5,498
    Most Pathogenic Variants2
  • #17,543of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedPIGP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification of m
PMID: 39988181
Biochim Biophys Acta Mol Basis Dis Β· 2025
1.00
2
Flow cytometry-based quantification of targeted knock-in events in human cell lines using a GPI-anchor biosynthesis gene PIGP.
PMID: 34750615
Biosci Rep Β· 2021
0.90
3
Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
PMID: 37125481
Clin Genet Β· 2023
0.80
4
Not just another case of nausea and vomiting: a review of postinfectious gastroparesis.
PMID: 20236395
J Am Acad Nurse Pract Β· 2010
0.70
5
The Aspergillus nidulans pigP gene encodes a subunit of GPI-N-acetylglucosaminyltransferase which influences filamentation and protein secretion.
PMID: 19421754
Curr Genet Β· 2009
0.60