AlphaFold predicted structure
PIGQ · Q9BRB3
Mean pLDDT
64.0/ 100
Low
760 residues
Confidence breakdown
- Very high(≥ 90)21%
- Confident(70–90)31%
- Low(50–70)11%
- Very low(< 50)38%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PIGQ
Chr 16p13.3phosphatidylinositol glycan anchor biosynthesis class Q
- Aliases:
- hGPI1, GPI1
- MANE:
- ENST00000321878.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalPaediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
genetic developmental and epileptic encephalopathy
0.71epilepsy
0.56hereditary disease
0.50neurodegenerative disease
0.37early-infantile DEE
0.37developmental and epileptic encephalopathy
0.30Global developmental delay
0.26Seizure
0.26optic atrophy
0.26retinitis pigmentosa
0.11
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
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
Diseases associated with PIGQ
Curated MONDO disease pages that list PIGQ among their top associated genes.