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NEDVIL
Chr 19phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Also known as: LCCS3, NEDVIL, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma
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]
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/NEDVIL?content-type=application/json
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
NEDVIL · protein map & ClinVar variants
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External Resources
Links to major genomics databases and tools
Clinical Trials
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