Disease-gene associations mined from literature

Literature associating CCP110 and spinocerebellar ataxia type 11

CCP110 [ENSP00000370803]

Centriolar coiled-coil protein of 110 kDa; Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation. Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation (By similarity). Required for correct spindle formation and has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CETN2.

Synonyms:  CCP110,  CCP110p,  hCCP110,  CCP110-001,  CCP110-002 ...

Linkouts:  STRING  Pharos  UniProt