PIGK Chromosome 1
Phosphatidylinositol glycan anchor biosynthesis class K
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What This Gene Does
This gene encodes a member of the cysteine protease family C13 that is involved 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 protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol transamidase complex|Transaminases"
Locus Type
gene with protein product
Location
1p31.1
Ensembl
ENSG00000142892
Associated Conditions (3)
Inborn genetic diseases
Neurodevelopmental disorder with hypotonia and cerebellar atrophy
with or without seizures
Key Variants
RS373393953
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1164656857
Pathogenic
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy
Health Risk
RS1654968072
Pathogenic
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy
Health Risk
RS1656295216
Pathogenic
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy
Health Risk
RS1656391998
Pathogenic
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy
Health Risk
RS1656392054
Pathogenic
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy
Health Risk
RS2100594030
Pathogenic
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy
Health Risk
RS747692385
Pathogenic
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy
Health Risk
RS772948495
Pathogenic
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy
Health Risk
RS778946833
Pathogenic
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS373393953 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1164656857 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy |
| RS1654968072 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy |
| RS1656295216 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy |
| RS1656391998 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy |
| RS1656392054 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy |
| RS2100594030 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy |
| RS747692385 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy |
| RS772948495 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy |
| RS778946833 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, Neurodevelopmental disorder with hypotonia and cerebellar atrophy |