PIGM

Chr 1q23.2

phosphatidylinositol glycan anchor biosynthesis class M

Aliases:: GPI-MT-I, PIG-M
MANE:: ENST00000368090.5

OMIM: 610273 ↗NCBI: 93183 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PIGM · Q9H3S5

v62025-08-01

Predicted Aligned Error matrix for PIGM — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.4/ 100

Very high

423 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)13%
Low(50–70)6%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
0.70
hereditary disease
0.27
nephronophthisis
0.07
Genetic renal or urinary tract malformation
0.04
plasma cell myeloma
0.04
heart disorder
0.02
Hypercholesterolemia
0.02
cancer
0.02
infection
0.01
paroxysmal nocturnal hemoglobinuria
0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

GPI alpha-1,4-mannosyltransferase I, catalytic subunit

Catalytic subunit of the glycosylphosphatidylinositol-mannosyltransferase I complex which catalyzes the transfer of the first mannose, via an alpha-1,4 bond from a dolichol-phosphate-mannose (Dol-P-Man) to a 2-acyl-6-alpha-D-glucosaminyl-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl acyl phosphatidylinositol, GlcN-(acyl)PI) intermediate to generate 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H2) and participates in the sixth step of the glycosylphosphatidylinositol-anchor biosynthesis