PIGP

Chr 21q22.13

phosphatidylinositol glycan anchor biosynthesis class P

Aliases:: DCRC, DSRC
MANE:: ENST00000360525.9

OMIM: 605938 ↗NCBI: 51227 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PIGP · P57054

v62025-08-01

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

Mean pLDDT

82.3/ 100

Confident

158 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)49%
Low(50–70)15%
Very low(< 50)3%

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)

developmental and epileptic encephalopathy, 55
0.69
early-infantile DEE
0.37
neurodegenerative disease
0.32
hereditary disease
0.19
Multiple congenital anomalies - hypotonia - seizures syndrome
0.18
multiple congenital anomalies-hypotonia-seizures syndrome
0.18
developmental and epileptic encephalopathy
0.14
eye color
0.10
type 2 diabetes mellitus
0.09
colorectal carcinoma
0.08

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

Protein function (UniProt)

Phosphatidylinositol N-acetylglucosaminyltransferase subunit P

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