Anti-BBS1 antibody (N-terminus) is validated on mouse tissue and recommended for immunofluorescence labeling, IHC, or western blot of materials from rodent and human tissues.
Bardet-Biedl syndrome 1 (BBS1) protein is encoded by the BBS1 gene in human. The BBS1 protein participates in the formation of the BBSome complex, which plays a vital role in centrosome function.
Mutations in BBS1 cause Bardet–Biedl syndrome, an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation (OMIM 209900).
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