Anti-SDCCAG8 Antibody, clone 12D7.1 clone 12D7.1, from mouse

Serologically defined colon cancer antigen 8 (UniProt: Q86SQ7; also known as Antigen NY-CO-8, Centrosomal colon cancer autoantigen protein, hCCCAP, SDCCAG8) is encoded by the SDCCAG8 (also known as CCCAP, NPHP10) gene (Gene ID: 10806) in human. Serologically defined colon cancer antigen 8 is a homodimeric cell junction protein that regulates centrosomal accumulation of pericentriolar material (PCM) and neuronal polarization and migration in the developing cortex. SDCCAG8 protein interacts and cotraffics with PCM, which is shown to be crucial for targeting proteins to the centrosome. It also plays a role in the establishment of cell polarity and epithelial lumen formation and may also play a role in ciliogenesis. Four isoforms of SDCCAG8 protein have been described that are produced by alternative splicing. SDCCAG8 protein has 3 coiled coil regions (aa 129-175; 223-273; and 348-707). SDCCAG8 gene expression is shown to be selectively elevated in newborn neurons prior to their commencement of radial locomotion. Mutations in this gene results in neuronal migration defects. Mutations in SDCCAG8 gene are linked to Senior-Loken syndrome 7 (SLSN7), a renal-retinal disorder, which is characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. In addition some mutations can cause Bardet-Biedl syndrome 16 (BBS16), which is characterized by severe pigmentary retinopathy, early-onset obesity, renal malformation, and mental retardation. (Ref.: Insolera, R., et al. (2014). Neuron 83(4); 805 822).