RIT1
Function
Plays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation.
Involvement in disease
Noonan syndrome 8
NS8
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the small GTPase superfamily. Ras family.
Tissue Specificity
Expressed in many tissues.
Cellular localization
- Cell membrane
Alternative names
RIBB, RIT, ROC1, RIT1, GTP-binding protein Rit1, Ras-like protein expressed in many tissues, Ras-like without CAAX protein 1