DISEASES

Disease-gene associations mined from literature

Literature associating POC1B and cone-rod dystrophy 2

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