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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PIGM
phosphatidylinositol glycan anchor biosynthesis class M
Chromosome 1 Β· 1q23.2
NCBI Gene: 93183Ensembl: ENSG00000143315.8HGNC: HGNC:18858UniProt: Q9H3S5
23PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
dol-P-Man:GlcN-acyl-PI alpha-1,4-mannosyltransferase activityendoplasmic reticulum membraneprotein bindingGPI anchor biosynthetic processhypercoagulability syndrome due to glycosylphosphatidylinositol deficiencygenetic disordermultiple myelomaheart disease
✦AI Summary

PIGM (phosphatidylinositol glycan anchor biosynthesis class M) encodes the catalytic subunit of glycosylphosphatidylinositol (GPI)-mannosyltransferase I, which catalyzes transfer of the first mannose residue to GPI core structures during GPI anchor biosynthesis 1. This enzymatic activity is essential for generating mature GPI anchors that tether numerous cell surface proteins including co-receptors, enzymes, and adhesion molecules to lipid rafts 1. PIGM transcription is tightly regulated by the generic transcription factor Sp1, with cell-type-specific chr1 accessibility determining tissue-specific expression patterns 2. Mutations in PIGM cause inherited glycosylphosphatidylinositol deficiency (IGD), a rare congenital disorder of glycosylation with heterogeneous clinical presentations 3. PIGM promoter mutations associate with intractable epilepsy, intellectual disability, and thrombotic complications including portal and cerebral vein thrombosis 34. Coding variants in PIGM cause more severe phenotypes, including cystic encephalomalacia and progressive neurodegeneration 5. Sodium phenylbutyrate shows therapeutic promise in managing certain PIGM-deficiency presentations 3. Understanding PIGM regulation and function provides insights into GPI-anchor biosynthesis and potential treatment strategies for GPI-related disorders.

Sources cited
1
PIGM encodes GPI-mannosyltransferase I that adds the first mannose to GPI core; GPI-anchored proteins function as cell co-receptors, enzymes, and adhesion molecules in lipid rafts
PMID: 38414627
2
PIGM promoter mutations disrupt Sp1 binding; PIGM transcription shows cell-type-specific chromatin accessibility and Sp1 binding patterns between B cells and erythroid cells
PMID: 25293775
3
PIGM promoter mutations disrupt Sp1 transcription factor binding and alter epigenetic landscape of housekeeping genes
PMID: 19960552
4
Biallelic PIGM coding variants cause intractable epilepsy and intellectual disability; this is the first report of a PIGM coding variant
PMID: 39425582
5
PIGM coding variants associate with severe cystic encephalomalacia, portal vein thrombosis, and progressive neurodegeneration; first case of PIGM-related IGD due to coding variant
PMID: 39119839
6
PIGM promoter mutations cause portal vein thrombosis, cerebral thrombosis, macrocephaly, and absence seizures; sodium phenylbutyrate shows therapeutic potential
PMID: 31445883
Disease Associationsβ“˜21
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiencyOpen Targets
0.69Moderate
genetic disorderOpen Targets
0.27Weak
multiple myelomaOpen Targets
0.03Suggestive
heart diseaseOpen Targets
0.02Suggestive
HypercholesterolemiaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
developmental and epileptic encephalopathyOpen Targets
0.01Suggestive
thrombotic diseaseOpen Targets
0.01Suggestive
Intellectual disabilityOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Epileptic encephalopathyOpen Targets
0.00Suggestive
paroxysmal nocturnal hemoglobinuriaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.00Suggestive
hepatitis C virus infectionOpen Targets
0.00Suggestive
Miyoshi myopathyOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
visceral LeishmaniasisOpen Targets
0.00Suggestive
Glycosylphosphatidylinositol biosynthesis defect 1UniProt
Pathogenic Variants2
NM_145167.3(PIGM):c.2T>C (p.Met1Thr)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2015β†’ Residue 1
NM_145167.3(PIGM):c.401del (p.Asn134fs)Pathogenic
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
β˜…β˜†β˜†β˜†β†’ Residue 134
View on ClinVar β†—
Related Genes
PIGFShared pathway100%CWH43Shared pathway100%PGAP4Shared pathway100%PIGXProtein interaction100%ALG3Protein interaction99%DPM3Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Brain
91%
Liver
91%
Bone Marrow
62%
Lung
55%
Ovary
48%
Gene Interaction Network
Click a node to explore
PIGMPIGFCWH43PGAP4PIGXALG3DPM3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H3S5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.59 [0.37–0.97]
RankingsWhere PIGM stands among ~20K protein-coding genes
  • #13,482of 20,598
    Most Researched23
  • #4,542of 5,498
    Most Pathogenic Variants2
  • #9,284of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedPIGM
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Role of
PMID: 38414627
Biomed Rep Β· 2024
1.00
2
Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.
PMID: 25293775
Blood Β· 2014
0.90
3
Inherited GPI deficiency: a disorder of histone hypoacetylation.
PMID: 19960552
Birth Defects Res C Embryo Today Β· 2009
0.80
4
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.
PMID: 39425582
Clin Genet Β· 2025
0.70
5
Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1).
PMID: 39119839
Am J Med Genet A Β· 2024
0.60