Chimerin 1

Chimerin 1 is a protein that in humans is encoded by the CHN1 gene. This protein is a GTPase-activating protein (GAP) that modulates specific GTPases, which are critical components of cellular signaling pathways.

Function

Chimerin 1 is a member of the RhoGAP family of proteins, which function as modulators of the Rho GTPases. These GTPases act as molecular switches, controlling various cellular processes by cycling between an inactive GDP-bound state and an active GTP-bound state. RhoGAP proteins, including Chimerin 1, accelerate the intrinsic GTPase activity of Rho GTPases, thereby switching them to their inactive state.

Clinical significance

Mutations in the CHN1 gene have been associated with Duane retraction syndrome, a congenital eye movement disorder. This association suggests a role for Chimerin 1 in the development of the human nervous system.

See also

• Rho family of GTPases
• Duane retraction syndrome

External links

• CHN1 gene at National Center for Biotechnology Information

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