PIGC

Chr 1q24.3

phosphatidylinositol glycan anchor biosynthesis class C

Aliases:: PIG-C, GPI2
MANE:: ENST00000344529.5

OMIM: 601730 ↗NCBI: 5279 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PIGC · Q92535

v62025-08-01

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

Mean pLDDT

89.1/ 100

Confident

297 residues

Confidence breakdown

Very high(≥ 90)65%
Confident(70–90)28%
Low(50–70)5%
Very low(< 50)2%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

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

Disease associations (Open Targets)

glycosylphosphatidylinositol biosynthesis defect 16
0.74
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
0.46
autosomal recessive non-syndromic intellectual disability
0.37
neurodegenerative disease
0.36
Global developmental delay
0.34
Non-immune hydrops fetalis
0.27
breast cancer
0.19
placenta praevia
0.13
placental abruption
0.13
venous thromboembolism
0.11

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

Protein function (UniProt)

Phosphatidylinositol N-acetylglucosaminyltransferase subunit C

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