OFD1 : OFD1 centriole and centriolar satellite protein

Description

The OFD1 (OFD1 centriole and centriolar satellite protein) is a protein-coding gene located on chromosome X.

The OFD1 gene provides instructions for creating a protein whose specific function is not completely understood. It appears to play a crucial role in the early development of many parts of the body, including the brain, face, limbs, and kidneys. The OFD1 protein is found at the base of cilia, finger-like projections extending from cell surfaces. Cilia are involved in cell movement and various chemical signaling pathways, playing important roles in the development and function of many body parts. Researchers believe the OFD1 protein is essential for the normal formation of cilia. Studies indicate that the OFD1 protein might have additional functions. In the early stages of development, it appears involved in establishing the left-right axis, the imaginary line separating the body's left and right sides. The OFD1 protein is also found in the nucleus, although its function in this cell structure remains unknown.

The OFD1 protein is a component of the centrioles, which are involved in controlling the length of mother and daughter centrioles. It recruits IFT88 and CEP164, both essential for the proper development of centrioles and cilia. OFD1 plays a critical role in ciliogenesis, which is the process of forming cilia, essential cell surface projections that play a crucial role in development and tissue homeostasis. OFD1 also regulates Wnt signaling and the specification of the left-right axis, demonstrating its vital role in early development. Interestingly, autophagy selectively removes OFD1 localized at the centriolar satellites, suggesting a potential regulatory mechanism for ciliogenesis.

OFD1 is also known as 71-7A, CXorf5, JBTS10, RP23, SGBS2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing