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Human Polyclonal SDCCAG8 Primary Antibody for ELISA, WB - ABIN4352339
Otto, Hurd, Airik, Chaki, Zhou, Stoetzel, Patil, Levy, Ghosh, Murga-Zamalloa, van Reeuwijk, Letteboer, Sang, Giles, Liu, Coene, Estrada-Cuzcano, Collin, McLaughlin, Held, Kasanuki, Ramaswami, Conte et al.: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. ... in Nature genetics 2010
Variants in NPHS2, SDCCAG8 and near BMP4 (show BMP4 Antibodies) appear to interact with APOL1 (show APOL1 Antibodies) to modulate the risk for non-diabetic end stage kidney disease in african americans.
Our results and prior literature suggest that SDCCAG8 could play an important role in presumed Bardet-Biedl syndrome (BBS (show BBS2 Antibodies)) patients affected with severe kidney disease and absent polydactyly.
Intronic variants of SDCCAG8, which are associated with early onset obesity, are associated with reduced weight loss after a 1-year lifestyle intervention in overweight children and adolescents even after adjusting for age, sex, baseline measurement.
Mutation of SDCCAG8 is associated with retinal-renal ciliopathy.
SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, AZI1), of the endosomal sorting complex (RABEP2, ERC1), and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14) at the centrosome.
Our analysis of Sdccag8(gt/gt (show FABP6 Antibodies)) mice indicates that the pleiotropic phenotypes in these mice may arise through multiple tissue-specific disease mechanisms.
results reveal a critical role for SDCCAG8 in controlling centrosomal properties and function.
This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy.
, centrosomal colon cancer autoantigen protein
, serologically defined colon cancer antigen 8 homolog