Description
SDCCAG8 is a gene that codes for a protein with four isoforms, with weights of 713, 360, 634, and 669 amino acids and weights of approximately 83, 41, 73, and 78 kDa respectively. The protein coded by SDCCAG8 helps in the formation of epithelial lumen as well as the establishment of cell polarity and is expressed in the thymus, prostate, testis, ovary, small intestine and mucosa as well as in colon and renal cancer tumors. Current studies are being done on several diseases and disorders linked to this gene including colon cancer, Senior-Loken syndrome, Bardet-Biegl syndrome, retinitis, nystagmus, eye disease, polydactyly, multiple sclerosis, and prostatitis. SDCCAG8 has also been shown to have interactions with TSC1, TRAF6, ALMS1, CEP152, and CEP164 in pathways such as the centrosome maturation, cell cycle, and G2/M transition pathways.
Protein Function
Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). Also plays 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.
Involvement in Disease
Senior-Loken syndrome 7 (SLSN7): A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. The disease is caused by variants affecting the gene represented in this entry. Bardet-Biedl syndrome 16 (BBS16): A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by variants affecting the gene represented in this entry.
