SDCCAG8
Description
The SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8) is a protein-coding gene located on chromosome 1.
SDCCAG8 (Serologically defined colon cancer antigen 8) is a protein encoded by the SDCCAG8 gene in humans. This protein is located in the centrioles. Mutations in SDCCAG8 have been linked to nephronophthisis-related ciliopathies. SDCCAG8 interacts directly with OFD1, another protein associated with nephronophthisis-related ciliopathies.
SDCCAG8 plays a crucial role in establishing cell polarity and forming epithelial lumens. It also has a vital function in ciliogenesis, the process of forming cilia, and subsequent activation of the Hedgehog signaling pathway. This pathway requires intact primary cilia for proper function. Notably, SDCCAG8 interacts with and mediates the localization of RABEP2 to the centrosome, a process essential for ciliogenesis.
SDCCAG8 is also known as BBS16, CCCAP, CCCAP SLSN7, HSPC085, NPHP10, NY-CO-8, SLSN7, hCCCAP.
