PIGH

Chr 14q24.1

phosphatidylinositol glycan anchor biosynthesis class H

Aliases:: GPI-H
MANE:: ENST00000216452.9

OMIM: 600154 ↗NCBI: 5283 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PIGH · Q14442

v62025-08-01

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

Mean pLDDT

86.9/ 100

Confident

188 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)47%
Low(50–70)6%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

glycosylphosphatidylinositol biosynthesis defect 17
0.72
epilepsy
0.37
Febrile seizure (within the age range of 3 months to 6 years)
0.37
disorder of GPI anchor biosynthesis
0.37
neurodegenerative disease
0.30
hereditary disease
0.19
Familial prostate cancer
0.11
prostate cancer
0.11
acute lymphoblastic leukemia
0.07
Hyperlipoproteinemia type 5
0.07

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

Protein function (UniProt)

Phosphatidylinositol N-acetylglucosaminyltransferase subunit H

Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis