CC2D2A

CC2D2A is a gene in humans that encodes a protein known as coiled-coil and C2 domain-containing protein 2A. This protein is involved in the function of cilia and flagella and is essential for the proper formation of the ciliary transition zone. Mutations in the CC2D2A gene are associated with several ciliopathies, including Meckel syndrome and Joubert syndrome.

Function

The CC2D2A protein is a component of the transition zone, a region at the base of the ciliary axoneme. The transition zone acts as a barrier that regulates the movement of proteins into and out of the cilia. The CC2D2A protein is thought to play a crucial role in this process, helping to ensure that only the correct proteins are allowed into the cilia.

Clinical significance

Mutations in the CC2D2A gene can cause a variety of ciliopathies. These are a group of rare, genetic disorders that are characterized by defects in the structure or function of cilia.

Meckel syndrome

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe ciliopathy that is often fatal in infancy. It is characterized by a combination of birth defects, including encephalocele, polycystic kidney disease, and polydactyly. Mutations in the CC2D2A gene are one of the causes of Meckel syndrome.

Joubert syndrome

Joubert syndrome is another ciliopathy that can be caused by mutations in the CC2D2A gene. This disorder is characterized by a distinctive brain malformation known as the "molar tooth sign," as well as a variety of other symptoms, including hypotonia, ataxia, and intellectual disability.

See also

• Ciliopathy
• Meckel syndrome
• Joubert syndrome