RHOF
The rhof Gene: A Key Player in Cell Movement and Disease
Description:
The rhof gene encodes a member of the Rho family of small GTPases, which play crucial roles in regulating cell shape, movement, and division. RhoF specifically participates in controlling the formation of actin stress fibers, which are essential for cell stability and adhesion.
Associated Diseases:
Mutations in the rhof gene have been linked to several rare diseases, including:
- Microcephaly (MCPH): A condition characterized by an abnormally small head size due to impaired brain development.
- Mental retardation: Intellectual disability associated with developmental delays.
- Congenital heart defects: Structural abnormalities of the heart present from birth.
- Umbilical hernia: A protrusion of the intestines through an opening in the abdominal muscles.
Did you Know ?
Approximately 20% of individuals with MCPH due to mutations in the rhof gene also have congenital heart defects.
