PIGQ Chromosome 16
Phosphatidylinositol glycan anchor biosynthesis class Q
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What This Gene Does
This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
"Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000007541
Associated Conditions (8)
Epilepsy
Inborn genetic diseases
Developmental and epileptic encephalopathy
77
PIGQ-related disorder
Optic atrophy
Global developmental delay
Intractable seizure
Key Variants
RS1283058431
Conflicting classifications of pathogenicity
Epilepsy, Inborn genetic diseases, Epilepsy
Health Risk
RS137907943
Conflicting classifications of pathogenicity
Epilepsy, Inborn genetic diseases, Epilepsy
Health Risk
RS1385011604
Conflicting classifications of pathogenicity
Epilepsy, Inborn genetic diseases, Epilepsy
Health Risk
RS139256741
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142961139
Conflicting classifications of pathogenicity
Epilepsy, Inborn genetic diseases, Developmental and epileptic encephalopathy
Health Risk
RS146122020
Conflicting classifications of pathogenicity
Epilepsy, Inborn genetic diseases, Epilepsy
Health Risk
RS148151840
Conflicting classifications of pathogenicity
Epilepsy, Inborn genetic diseases, Epilepsy
Health Risk
RS149108761
Conflicting classifications of pathogenicity
PIGQ-related disorder, Developmental and epileptic encephalopathy, 77
Health Risk
RS149175905
Conflicting classifications of pathogenicity
Epilepsy, PIGQ-related disorder, Epilepsy
Health Risk
RS150887807
Conflicting classifications of pathogenicity
Epilepsy, Inborn genetic diseases, Developmental and epileptic encephalopathy
Health Risk
RS182739177
Conflicting classifications of pathogenicity
Epilepsy, Epilepsy
Health Risk
RS2035837216
Conflicting classifications of pathogenicity
Epilepsy, Inborn genetic diseases, Epilepsy
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776641714 | Health Risk | Pathogenic | Epilepsy, Epilepsy |
| RS777480754 | Health Risk | Pathogenic | Epilepsy, Epilepsy |
| RS780581800 | Health Risk | Pathogenic | Epilepsy, Epilepsy |
| RS2151044300 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 77, Epilepsy |
| RS766667249 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 77 |
| RS778325154 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, Developmental and epileptic encephalopathy, Epilepsy |