PIP5K1A Chromosome 1

Phosphatidylinositol-4-phosphate 5-kinase type 1 alpha

1 variant 1 Health Risk

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What This Gene Does

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and kinase binding activity. Involved in several processes, including activation of GTPase activity; focal adhesion assembly; and ruffle assembly. Located in several cellular components, including lamellipodium; nucleus; and ruffle membrane. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (1)

Intellectual developmental disorder 60 with seizures

Key Variants

RS933715329

Likely pathogenic

Intellectual developmental disorder 60 with seizures, Intellectual developmental disorder 60 with seizures

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS933715329	Health Risk	Likely pathogenic	Intellectual developmental disorder 60 with seizures, Intellectual developmental disorder 60 with seizures