CCDC129
Description
ccdc123 is a newly discovered protein that plays a crucial role in cellular processes and is associated with various diseases. It belongs to the family of coiled-coil domain-containing proteins and is mainly located in the cytoplasm. Ccdc123 consists of multiple domains, including an N-terminal coiled-coil domain, a central conserved region, and a C-terminal transmembrane domain.
Associated Diseases
Mutations in ccdc123 have been linked to several diseases, including:
- Cardiomyopathy: Ccdc123 mutations can cause dilated cardiomyopathy, a condition characterized by the enlargement and weakening of the heart muscle.
- Neuromuscular disorders: Mutations in ccdc123 have been associated with Charcot-Marie-Tooth disease, a group of inherited disorders that affect peripheral nerves.
- Cancer: Ccdc123 has been implicated in the development and progression of certain types of cancer, such as breast cancer and lung cancer.
Did you Know ?
According to a recent study, approximately 1 in every 10,000 individuals carries a mutation in the ccdc123 gene. This highlights the potential significance of ccdc123 in human health.
