CDC42EP1

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Description

The CDC42EP1 (CDC42 effector protein 1) is a protein-coding gene located on chromosome 22.

Cdc42 effector protein 1 is a protein encoded by the CDC42EP1 gene in humans. CDC42, a member of the Rho GTPase family, regulates various cellular activities, including actin polymerization. This protein binds to CDC42, mediating actin cytoskeleton reorganization at the plasma membrane. It is secreted and primarily found in bone marrow. Two transcript variants encoding different isoforms have been identified for this gene.

This protein is likely involved in organizing the actin cytoskeleton and inducing membrane extensions in fibroblasts.

CDC42EP1 is also known as BORG5, CEP1, MSE55.

Associated Diseases

• multiple sclerosis
• Parkinson disease
• lysosomal storage disease
• Alzheimer disease
• nonpapillary renal cell carcinoma
• tuberculosis
• cancer