CEP97
Description
The CEP97 (centrosomal protein 97) is a protein-coding gene located on chromosome 3.
Centrosomal protein of 97 kDa (Cep97), also known as leucine-rich repeat and IQ domain-containing protein 2 (LRRIQ2), is a protein that in humans is encoded by the CEP97 gene. Cep97 along with CP110 inhibit generation of cilia.
CEP97 acts as a key negative regulator of ciliogenesis, working together with CCP110 to prevent cilia formation. This protein pair accomplishes this by capping the mother centriole. CEP97 is also essential for the recruitment of CCP110 to the centrosome.
CEP97 is also known as 2810403B08Rik, LRRIQ2.
Associated Diseases
- COVID-19
- syndactyly type 4
- synpolydactyly type 1
- polydactyly of a triphalangeal thumb
- polydactyly, postaxial, type A1
- symphalangism with multiple anomalies of hands and feet
- brachydactyly type C
- syndactyly type 5
- mesoaxial synostotic syndactyly with phalangeal reduction
- brachydactyly type A2
- brachydactyly type A7
- Meckel syndrome
- polysyndactyly 4
