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Variants in NPHS2, SDCCAG8 and near BMP4 (show BMP4 ELISA Kits) appear to interact with APOL1 (show APOL1 ELISA Kits) 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) 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 (show RABEP2 ELISA Kits), ERC1 (show ERC1 ELISA Kits)), and with non-muscle myosin motor proteins (MYH9 (show MYH9 ELISA Kits), MYH10 (show MYH10 ELISA Kits), MYH14) at the centrosome.
Our analysis of Sdccag8(gt/gt (show FABP6 ELISA Kits)) 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