RHOBTB1
Description
The RHOBTB1 (Rho related BTB domain containing 1) is a protein-coding gene located on chromosome 10.
RHOBTB1 gene encodes a protein known as Rho-related BTB domain-containing protein 1, which belongs to the Rho family of small GTPases. This protein plays a significant role in cell signaling and the organization of the actin cytoskeleton. It contains a GTPase domain, a proline-rich region, two BTB domains, and a conserved C-terminal region. The gene exhibits alternative splicing, resulting in different isoforms of the protein.
RHOBTB1 protein is involved in cell signaling pathways by interacting with other proteins and regulating the assembly of the actin cytoskeleton. Its role is crucial in various cellular processes like cell movement, shape, and division.
RHOBTB1 is also known as -.
Associated Diseases
- alopecia
- thyroid cancer, nonmedullary, 1
- goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
- hypothyroidism due to TSH receptor mutations
- glycogen storage disease due to glycogen branching enzyme deficiency
- hypothyroidism, congenital, nongoitrous
- thyroid cancer, nonmedullary, 4
- Ascher syndrome
- hypothyroidism, congenital, nongoitrous, 5
- Pendred syndrome
- autosomal recessive nonsyndromic hearing loss 4
- refractive error
