RACGAP1 Chromosome 12

Rac GTPase activating protein 1

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]

Associated Conditions (4)

Anemia

congenital dyserythropoietic

type IIIb

autosomal recessive

Key Variants

RS1264268274

Pathogenic

Anemia, congenital dyserythropoietic, type IIIb

Health Risk

RS1948102480

Pathogenic

Anemia, congenital dyserythropoietic, type IIIb

Health Risk

RS760038605

Pathogenic

Anemia, congenital dyserythropoietic, type IIIb

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1264268274	Health Risk	Pathogenic	Anemia, congenital dyserythropoietic, type IIIb
RS1948102480	Health Risk	Pathogenic	Anemia, congenital dyserythropoietic, type IIIb
RS760038605	Health Risk	Pathogenic	Anemia, congenital dyserythropoietic, type IIIb