CDC42EP5
Description
The CDC42EP5 (CDC42 effector protein 5) is a protein-coding gene located on chromosome 19.
CDC42 effector protein 5 (CDC42EP5) is a protein encoded by the CDC42EP5 gene in humans. It is part of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. These proteins bind to CDC42 and negatively regulate its function. CDC42EP5 may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. It may also play a role in septin organization and inducing pseudopodia formation in fibroblasts.
CDC42EP5 is likely involved in organizing the actin cytoskeleton, potentially by acting downstream of CDC42 to promote actin filament assembly and cell shape changes. It also induces pseudopodia formation in fibroblasts and inhibits MAPK8 independent of CDC42 binding. CDC42EP5 controls septin organization, but this effect is negatively regulated by CDC42.
CDC42EP5 is also known as Borg3, CEP5.
Associated Diseases
- Parkinson disease
- multiple sclerosis
- lysosomal storage disease
- Alzheimer disease
- linear and whorled nevoid hypermelanosis
- uncombable hair syndrome
- primary immunodeficiency syndrome due to p14 deficiency
- Griscelli syndrome type 3
- eosinophil peroxidase deficiency
- neutropenia, severe congenital, 1, autosomal dominant
- ichthyosis prematurity syndrome
- hypotrichosis simplex
