DISEASES

Disease-gene associations mined from literature

Literature associating OFD1 and Bardet-Biedl syndrome 4

OFD1 [ENSP00000344314]

Oral-facial-digital syndrome 1 protein; Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).

Synonyms:  OFD1,  OFD1p,  hOFD1,  A6NF31,  A8K2T9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM