PI4K2A Chromosome 10

Phosphatidylinositol 4-kinase type 2 alpha

2 variants 2 Health Risk

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What This Gene Does

Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]

Associated Conditions (3)

Neurodevelopmental disorder with hyperkinetic movements

seizures

and structural brain abnormalities

Key Variants

RS759390226

Pathogenic

Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities

Health Risk

RS766055659

Pathogenic

Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS759390226	Health Risk	Pathogenic	Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
RS766055659	Health Risk	Pathogenic	Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities