epitope mapping at the N-terminus of BBS1 of human origin
recommended for detection of BBS1 of mouse, rat and human origin by WB, IF and ELISA; also reactive with additional species, including equine, canine and porcine
TransCruz reagent for Gel Supershift and ChIP applications, sc-49790 X, 200 µg/0.1 ml
BBS1 Background Information Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. BBS patients also have an increased risk of developing diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder mapping to eight genetic loci and encoding eight proteins, BBS1-BBS8. Five BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS1 is the protein most commonly involved in Bardet-Biedl syndrome. The BBS1 gene is ubiquitously expressed, with highest abundance in in fetal tissues, testis, retina, and adipose tissue. BBS1 is highly conserved in mammals and is inherited in an autosomal recessive manner. Missense mutations in the BBS1 gene account for approximately 80% of all BBS1 mutations.
BBS1 (N-20) 논문정보
BBS1 (N-20): sc-49790 antibody 및 BBS1 (N-20) antibody conjugates를 사용한 논문들을 보세요.
