Technical Data
B2641
BBS4 (Bardet-Biedl Syndrome 4, Bardet-Biedl Syndrome 4 Protein)
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Technical Data |
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B2641 |
BBS4 (Bardet-Biedl Syndrome 4, Bardet-Biedl Syndrome 4 Protein) |
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Description: This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetyglucosamine transferase. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4. BBS proteins do not show extensive homology with proteins of known function. Based on the observations that BBS8 localizes to the basal body of ciliated cells and expression of the Caenorhabditis elegans orthologues of several BBS proteins are limited to ciliated cells, it has been hypothesized that BBS is the result of a defect in cilia assembly or function. The functions of the proteins encoded by the Bardet–Biedl syndrome (BBS) genes are unknown. Mutations in these genes lead to the pleiotropic human disorder BBS, which is characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Secondary features include diabetes mellitus and hypertension. Applications: Suitable for use in Western Blot. Other applications not tested. Recommended Dilution: Western Blot: 1:5000 Optimal dilutions to be determined by the researcher. Storage and Stability: May be stored at 4°C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and store at -20°C. Aliquots are stable for at least 12 months at -20°C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer. |
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