DISEASES

Disease-gene associations mined from literature

Literature associating CEP350 and multiple epiphyseal dysplasia 4

CEP350 [ENSP00000356579]

Centrosome-associated protein of 350 kDa; Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ. Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network. Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity. Required for ciliation.

Synonyms:  CEP350,  CEP350p,  hCEP350,  A2A4F6,  E9PIK0 ...

Linkouts:  STRING  Pharos  UniProt