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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PIGC
phosphatidylinositol glycan anchor biosynthesis class C
Chromosome 1 Β· 1q24.3
NCBI Gene: 5279Ensembl: ENSG00000135845.11HGNC: HGNC:8960UniProt: Q92535
22PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulum membraneprotein bindingGPI anchor biosynthetic processglycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complexglycosylphosphatidylinositol biosynthesis defect 16Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylationautosomal recessive non-syndromic intellectual disabilityneurodegenerative disease
✦AI Summary

PIGC encodes a component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, which catalyzes the initial and rate-limiting step of GPI anchor biosynthesis by transferring N-acetylglucosamine to phosphatidylinositol 1. GPI anchors tether numerous cell surface proteins to the plasma membrane, and PIGC deficiency results in reduced surface expression of GPI-anchored proteins as demonstrated by flow cytometry analysis 12. Biallelic PIGC mutations cause a severe neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and early-onset treatment-resistant seizures 12. A cohort of 18 probands with PIGC variants exhibited severe cognitive impairment, seizures, hypotonia, and brain imaging abnormalities, with premature death occurring in 10 cases (median age 40 months) 2. These clinical features define glycosylphosphatidylinositol biosynthesis defect 16, classified as a congenital disorder of glycosylation 3. Beyond neurological disease, PIGC expression is upregulated in hepatocellular carcinoma and correlates with poorer overall survival and increased immune cell infiltration, suggesting potential roles in cancer progression and immunity 4. A genome-wide association study identified suggestive association between a DNM3-PIGC locus variant and MS severity, implicating CNS resilience in neurological progression 5.

Sources cited
1
PIGC participates in GPI anchor biosynthesis; mutations reduce surface expression of GPI-anchored proteins and cause developmental delay, intellectual disability, and seizures
PMID: 27694521
2
Biallelic PIGC variants cause severe neurodevelopmental disorder with developmental delay, treatment-resistant seizures, premature mortality, hypotonia, and brain abnormalities
PMID: 40962973
3
PIGC deficiency is classified as a congenital disorder of glycosylation (CDG)
PMID: 28484880
4
PIGC is upregulated in hepatocellular carcinoma, correlates with poor prognosis and immune cell infiltration
PMID: 36061167
5
DNM3-PIGC locus variant shows suggestive association with MS severity, implicating CNS resilience
PMID: 37380766
Disease Associationsβ“˜21
glycosylphosphatidylinositol biosynthesis defect 16Open Targets
0.74Strong
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylationOpen Targets
0.50Moderate
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
Global developmental delayOpen Targets
0.34Weak
Non-immune hydrops fetalisOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.20Weak
placenta praeviaOpen Targets
0.20Weak
breast cancerOpen Targets
0.19Weak
venous thromboembolismOpen Targets
0.12Weak
blood coagulation diseaseOpen Targets
0.11Weak
hemorrhagic diseaseOpen Targets
0.11Weak
Hallux valgusOpen Targets
0.10Weak
purpuraOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Weak
metabolic syndromeOpen Targets
0.10Suggestive
aneurysmOpen Targets
0.09Suggestive
hypertensionOpen Targets
0.09Suggestive
glaucomaOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
Glycosylphosphatidylinositol biosynthesis defect 16UniProt
Pathogenic Variants7
NM_153747.2(PIGC):c.859G>T (p.Glu287Ter)Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16
β˜…β˜†β˜†β˜†2022β†’ Residue 287
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16|Global developmental delay
β˜…β˜†β˜†β˜†2019β†’ Residue 5
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16
β˜…β˜†β˜†β˜†2018β†’ Residue 212
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16
β˜…β˜†β˜†β˜†2018β†’ Residue 189
NM_153747.2(PIGC):c.794_796delinsT (p.Cys265fs)Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16
β˜†β˜†β˜†β˜†2025β†’ Residue 265
NM_153747.2(PIGC):c.437_445del (p.Thr146_Thr148del)Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16
β˜†β˜†β˜†β˜†2025β†’ Residue 146
NM_153747.2(PIGC):c.77A>G (p.Asp26Gly)Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16
β˜†β˜†β˜†β˜†2025β†’ Residue 26
View on ClinVar β†—
Related Genes
PGAP4Shared pathway100%PIGZShared pathway100%CWH43Shared pathway100%PIGXShared pathway100%PIGPProtein interaction100%PIGAProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
73%
Heart
60%
Lung
53%
Liver
46%
Brain
44%
Gene Interaction Network
Click a node to explore
PIGCPGAP4PIGZCWH43PIGXPIGPPIGA
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q92535
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.42–1.00]
RankingsWhere PIGC stands among ~20K protein-coding genes
  • #13,715of 20,598
    Most Researched22
  • #3,267of 5,498
    Most Pathogenic Variants7
  • #9,602of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedPIGC
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Integrated analysis of single-cell and bulk RNA sequencing data reveals a pan-cancer stemness signature predicting immunotherapy response.
PMID: 35488273
Genome Med Β· 2022
1.00
2
Locus for severity implicates CNS resilience in progression of multiple sclerosis.
PMID: 37380766
Nature Β· 2023
0.90
3
Mutations in the phosphatidylinositol glycan C (
PMID: 27694521
J Med Genet Β· 2017
0.80
4
Structures and chromosomal localizations of the glycosylphosphatidylinositol synthesis gene PIGC and its pseudogene PIGCP1.
PMID: 9325057
Genomics Β· 1997
0.70
5
What is new in CDG?
PMID: 28484880
J Inherit Metab Dis Β· 2017
0.60