DISEASES

Disease-gene associations mined from literature

Literature on CEP162

CEP162 [ENSP00000385215]

Centrosomal protein of 162 kDa; Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules. ; Belongs to the CEP162 family.

Synonyms:  CEP162,  CEP162p,  hCEP162,  F6V2J0,  Q5TB80 ...

Linkouts:  STRING  Pharos  UniProt