Serologically defined colon cancer antigen 8 (SDCCAG8)

SDCCAG8 (Serologically defined colon cancer antigen 8, also known as CCCAP, NPHP10, BBS16, among other names) is a centrosome- and cilia-associated protein essential for ciliogenesis, the organization of the centrosome, and epithelial cell polarity[2][1][4][3]. It interacts with key centrosomal and vesicle trafficking proteins (e.g., OFD1, RABEP2, ERC1, CEP131) to mediate the delivery and assembly of materials necessary for cilia formation and function[1]. Pathogenic mutations disrupt ciliary assembly and basal body function, cause impaired Hedgehog signaling, and lead to a spectrum of human genetic diseases known as ciliopathies—including nephronophthisis, Bardet-Biedl syndrome, and retinal-renal degenerative conditions[1][2]. SDCCAG8 has also been implicated as a genetic risk locus for early-onset obesity and neuropsychiatric disorders (schizophrenia, bipolar disorder), suggesting broader roles in developmental and homeostatic pathways beyond the primary cilia[2]. It is not a current therapeutic drug target, but serves as a critical disease biomarker for inherited ciliopathies[2][3][1].

Other names

CCCAPNPHP10HSPC085hCCCAPNY-CO-8SLSN7BBS16Antigen NY-CO-8Centrosomal colon cancer autoantigen proteinBardet-Biedl syndrome 16nephrocystin 10Senior-Loken syndrome 7CCCAP SLSN7