PIP5K1C Chromosome 19
Phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
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What This Gene Does
This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
Associated Conditions (3)
Lethal congenital contracture syndrome 3
Inborn genetic diseases
PIP5K1C-related neurodevelopmental disorder
Key Variants
RS1489575349
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 3, Inborn genetic diseases, Lethal congenital contracture syndrome 3
Health Risk
RS121908315
Pathogenic
Lethal congenital contracture syndrome 3, Lethal congenital contracture syndrome 3
Health Risk
RS1473218681
Pathogenic
Health Risk
RS764308612
Pathogenic
Health Risk
RS991616868
Pathogenic
PIP5K1C-related neurodevelopmental disorder, Inborn genetic diseases, PIP5K1C-related neurodevelopmental disorder
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1489575349 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital contracture syndrome 3, Inborn genetic diseases, Lethal congenital contracture syndrome 3 |
| RS121908315 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 3, Lethal congenital contracture syndrome 3 |
| RS1473218681 | Health Risk | Pathogenic | — |
| RS764308612 | Health Risk | Pathogenic | — |
| RS991616868 | Health Risk | Pathogenic | PIP5K1C-related neurodevelopmental disorder, Inborn genetic diseases, PIP5K1C-related neurodevelopmental disorder |