Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.
Custom Antibody Labeling
We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody. Learn More
Citations
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Rabinovich-Nikitin, I; Rakover, IS; et al. Beneficial Effect of Antibodies against beta- Secretase Cleavage Site of App on Alzheimer's-Like Pathology in Triple-Transgenic Mice. PLOS ONE 7:-(2012).
Wistow, G; Berstein, SL; et al. Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: Over 6000 non-redundant transcripts, novel genes and splice variants. MOLECULAR VISION 8:205-220(2002).
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