DISEASES

Disease-gene associations mined from literature

Literature associating SDCCAG8 and Bardet-Biedl syndrome 13

SDCCAG8 [ENSP00000355499]

Serologically defined colon cancer antigen 8; Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). Plays also an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localization which is critical for ciliogenesis .

Synonyms:  SDCCAG8,  SDCCAG8p,  hSDCCAG8,  A0A0C4DG71,  Q86SQ7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM