DISEASES

Disease-gene associations mined from literature

Literature associating POC1B and cone-rod dystrophy

POC1B [ENSP00000323302]

POC1 centriolar protein homolog B; Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation. Required for primary cilia formation, ciliary length and also cell proliferation. Required for retinal integrity; Belongs to the WD repeat POC1 family.

Synonyms:  POC1B,  POC1Bp,  hPOC1B,  A0MNP0,  F8VPF1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM