CEP164

Description

CEP164, also known as centrosomal protein 164, is a gene that plays a crucial role in the formation and function of cilia, hair-like structures found on the surface of many cells. Cilia are involved in a variety of cellular processes, including sensory perception, fluid movement, and cell signaling. Mutations in CEP164 can disrupt ciliary function, leading to a range of genetic disorders. The gene encodes a protein that localizes to the basal body, the structure from which cilia emerge, and is involved in the assembly and maintenance of the ciliary axoneme, the core structure of the cilium.

Associated Diseases

• Joubert syndrome
• Meckel-Gruber syndrome
• Orofaciodigital syndrome type I
• Sensenbrenner syndrome
• Bardet-Biedl syndrome
• Nephronophthisis
• Cranioectodermal dysplasia with skeletal anomalies
• Short-rib polydactyly syndrome type III

Did you know?

CEP164 mutations have been linked to a wide spectrum of ciliopathies, highlighting the gene‘s essential role in ciliary function and its impact on human health.