PIGS

Chr 17q11.2

phosphatidylinositol glycan anchor biosynthesis class S

Aliases:: PIG-S
MANE:: ENST00000308360.8

OMIM: 610271 ↗NCBI: 94005 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PIGS · Q96S52

v62025-08-01

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

Mean pLDDT

85.5/ 100

Confident

555 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)47%
Low(50–70)8%
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)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis

Disease associations (Open Targets)

glycosylphosphatidylinositol biosynthesis defect 18
0.77
neurodegenerative disease
0.26
hereditary disease
0.19
spinal cord injury
0.12
infection
0.01
cancer
0.01
cervical squamous intraepithelial neoplasia
0.01
Epileptic encephalopathy
0.01
cervical squamous cell carcinoma
0.01
clostridium difficile infection
0.01

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

Protein function (UniProt)

GPI-anchor transamidase component PIGS

Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis