CEP57 : centrosomal protein 57

Description

CEP57, also known as centrosomal protein 57, is a crucial gene involved in the assembly and function of cilia, hair-like structures present on the surface of many cells. These cilia play a vital role in various cellular processes, including sensing the environment, cell signaling, and fluid movement. CEP57 acts as a scaffolding protein within the centriole, a core component of cilia, ensuring its proper structure and assembly. Mutations in the CEP57 gene can lead to a range of human diseases, highlighting its essential role in cellular health.

Associated Diseases

• Joubert Syndrome
• Meckel-Gruber Syndrome
• Sensenbrenner Syndrome
• Orofaciodigital Syndrome Type IV
• Primary Ciliary Dyskinesia

Did you know?

CEP57 mutations can cause a wide spectrum of ciliopathies, with varying clinical presentations depending on the specific mutation and affected tissues.