Tetratricopeptide repeat domain 21b

Tetratricopeptide repeat domain 21b (also known as TTC21B) is a protein that in humans is encoded by the TTC21B gene. This protein is a member of the tetratricopeptide repeat (TPR) family, which is a type of protein motif found in a wide range of organisms.

Function

The TTC21B protein is involved in a variety of cellular processes, including protein-protein interactions, cell cycle regulation, and cellular trafficking. The TPR motifs in the protein allow it to interact with other proteins and play a role in these processes.

Clinical significance

Mutations in the TTC21B gene have been associated with a variety of medical conditions. For example, they have been linked to ciliopathies, a group of rare disorders characterized by abnormal cilia function. These include polycystic kidney disease, Bardet-Biedl syndrome, and Joubert syndrome.

Structure

The TTC21B protein contains multiple TPR motifs, which are composed of 34 amino acids and form a helix-turn-helix structure. This structure allows the protein to interact with a variety of other proteins.

See also

• Tetratricopeptide repeat
• Ciliopathy
• Protein-protein interaction

References

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