DIRC3
Description
The DIRC3 (disrupted in renal carcinoma 3) is a ncRNA gene located on chromosome 2.
DIRC3 is a gene that encodes a protein called Dirc3. This protein is a member of the ADP-ribosylation factor (ARF) family of small GTPases. ARF proteins are involved in the regulation of membrane trafficking, which is the process by which cells transport molecules within and between cells. Dirc3 is specifically involved in the regulation of endocytosis, which is the process by which cells take in molecules from their surroundings. Mutations in DIRC3 have been associated with several disorders, including intellectual disability, developmental delay, and seizures.
DIRC3 is a member of the ADP-ribosylation factor (ARF) family of small GTPases. ARF proteins play a critical role in regulating membrane trafficking, including vesicle budding, uncoating, and fusion. Dirc3 is specifically involved in the regulation of endocytosis, a process by which cells take in molecules from their surroundings. It interacts with several other proteins involved in endocytosis, including clathrin, AP-2, and dynamin.
DIRC3 is also known as -.
Associated Diseases
- cancer
- colorectal cancer
- hereditary renal cell carcinoma
- Pallister-Hall syndrome
- thyroid cancer
- Treacher-Collins syndrome