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PIP5K1C

Official Full Name
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Organism
Homo sapiens
GeneID
23396
Background
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]
Synonyms
LCCS3; PIP5Kgamma; PIP5K-GAMMA; PIP5K1-gamma;

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