CEP89

CEP89 (also known as CCDC123) is a protein that in humans is encoded by the CEP89 gene. It is a component of the centrosome, an organelle that serves as the main microtubule organizing center (MTOC) in animal cells.

Function

The CEP89 protein is a part of the centrosome, which plays a crucial role in cell division, intracellular transport, and cellular signaling. It is involved in the formation of the cilium, a small hair-like structure present on the surface of all mammalian cells. CEP89 is also associated with the centriole, a component of the centrosome, and is required for its duplication and function.

Clinical significance

Mutations in the CEP89 gene have been associated with primary ciliary dyskinesia, a rare genetic disorder that results in chronic respiratory tract infections, abnormally positioned internal organs, and infertility.

Structure

The CEP89 protein consists of 418 amino acids and has a molecular weight of approximately 48 kDa. It contains a coiled-coil domain, which is a common structural motif in proteins that function in a variety of cellular activities, including cell division and signal transduction.

See also

• Centrosome
• Cilium
• Centriole
• Primary ciliary dyskinesia

External links

• NCBI Gene
• UniProt

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