DISEASES

Disease-gene associations mined from literature

Literature associating CEP78 and juvenile spinal muscular atrophy

CEP78 [ENSP00000365782]

Centrosomal protein of 78 kDa; May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles. May play a role in cilium biogenesis.

Synonyms:  CEP78,  CEP78p,  hCEP78,  A8MST6,  Q5JTW2 ...

Linkouts:  STRING  Pharos  UniProt