PIGT

Chr 20ADSomaticAR

phosphatidylinositol glycan anchor biosynthesis class T

Also known as: CGI-06, MCAHS3, NDAP, PIG-T, PNH2

NCBI Gene: 51604ENSG00000124155UniProt: Q969N2OMIM: 610272

The encoded protein serves as an essential component of GPI transamidase, which catalyzes the transfer of glycosylphosphatidylinositol anchors to proteins in the endoplasmic reticulum for cell surface attachment. Mutations cause multiple congenital anomalies-hypotonia-seizures syndrome 3 through autosomal recessive inheritance and paroxysmal nocturnal hemoglobinuria 2 through somatic mutations or autosomal dominant inheritance. The pathogenicity results from defective GPI-anchor biosynthesis, disrupting normal protein anchoring to cell membranes.

OMIMResearchSummary from RefSeq, OMIM, UniProt
AD/Somatic/ARLOEUF 0.952 OMIM phenotypes
Clinical Summary— PIGT
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Gene-Disease Validity (ClinGen)
multiple congenital anomalies-hypotonia-seizures syndrome 3 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.95LOEUF
pLI 0.000
Z-score 1.78
OE 0.65 (0.45–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.28Z-score
OE missense 0.96 (0.87–1.05)
326 obs / 340.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.65 (0.45–0.95)
0≤0.351.4
Missense OE0.96 (0.87–1.05)
0≤0.61.4
Synonymous OE1.13
0≤1.21.6
LoF obs/exp: 19 / 29.4Missense obs/exp: 326 / 340.4Syn Z: -1.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PIGT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Allogeneic stem cell transplantation-A curative treatment for paroxysmal nocturnal hemoglobinuria with PIGT mutation: A case report
Schenone L et al.·World J Clin Cases
2022Case report
Homozygous Phosphatidylinositol Glycan Class T Mutation in an Indian Girl With Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Sai Chandar D et al.·Cureus
2021
Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit
Liu SS et al.·Molecules
2021Functional
Prevalence of maternal hyperglycemic subtypes by race/ethnicity and associations between these subtypes with adverse pregnancy outcomes: Findings from a large retrospective multi-ethnic cohort in the United States.
Liu X et al.·Diabetes Res Clin Pract
2024Cohort
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures
Bayat A et al.·Front Genet
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
PIGT promotes cell growth, glycolysis, and metastasis in bladder cancer by modulating GLUT1 glycosylation and membrane trafficking.
Tan M et al.·J Transl Med
2024
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F et al.·Int J Mol Sci
2023Review
Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).
Jiao X et al.·Orphanet J Rare Dis
2020Cohort
Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.
Ranjan A et al.·Cureus
2024Review
A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.
Klangjorhor J et al.·Int J Mol Sci
2025Case report
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients