Disease-gene associations mined from literature

Literature associating CCDC28B and Bardet-Biedl syndrome 1

CCDC28B [ENSP00000413017]

Coiled-coil domain-containing protein 28B; Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate assembly and function of mTORC1 complex.

Synonyms:  CCDC28B,  CCDC28Bp,  hCCDC28B,  E9PM03,  E9PM81 ...

Linkouts:  STRING  Pharos  UniProt