Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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Plays a role in the establishment of cell polarity and epithelial lumen formation. Plays also 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.
Gene References into Functions
Variants in NPHS2, SDCCAG8 and near BMP4 appear to interact with APOL1 to modulate the risk for non-diabetic end stage kidney disease in african americans. PMID: 24157943
significant associations in schizophrenia to SDCAAG8 and extensive replication of associations reported by the Schizophrenia. PMID: 22614287
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. PMID: 22626039
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. PMID: 22095114
Mutation of SDCCAG8 is associated with retinal-renal ciliopathy. PMID: 20835237
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cell junction. Note=Located at the distal ends of both centrioles and colocalizes to centrosomes throughout the cell cycle.; [Isoform 2]: Cytoplasm.
Tissue Specificity
Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors.