CACUL1 Chromosome 10

CDK2 associated cullin domain 1

1 variant 1 Health Risk

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What This Gene Does

Enables protein kinase binding activity. Involved in G1/S transition of mitotic cell cycle; positive regulation of cell population proliferation; and positive regulation of protein kinase activity. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (1)

Flexion contracture

Key Variants

RS1589602023

Likely pathogenic

Flexion contracture, Flexion contracture

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1589602023	Health Risk	Likely pathogenic	Flexion contracture, Flexion contracture