CCDC8

CCDC8 is a gene that encodes a protein in humans. This protein is a component of a complex that plays a crucial role in the regulation of cell growth and differentiation. Mutations in this gene have been associated with a variety of diseases, including 3-M syndrome, a rare growth disorder characterized by severe pre- and postnatal growth retardation.

Function

The CCDC8 gene provides instructions for making a protein that is part of a complex known as the obscurin-CCDC8-CUL7 complex. This complex is involved in the regulation of cell growth and differentiation, which are critical processes for the development and maintenance of all tissues and organs in the body.

Clinical significance

Mutations in the CCDC8 gene have been identified in individuals with 3-M syndrome. This condition is characterized by severe pre- and postnatal growth retardation, facial dysmorphisms, and skeletal abnormalities. The CCDC8 mutations that cause 3-M syndrome lead to the production of an abnormally short, nonfunctional version of the CCDC8 protein. As a result, the obscurin-CCDC8-CUL7 complex cannot form properly, which impairs its ability to regulate cell growth and differentiation. This disruption in cellular processes likely contributes to the growth retardation and skeletal abnormalities seen in individuals with 3-M syndrome.

See also

• 3-M syndrome
• Obscurin
• CUL7

External links

• NCBI Gene
• Genetics Home Reference