| Description : |
This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
34.6 kDa |
| AA Sequence : |
MAELGLNEHHQNEVINYMRFARSKR GLRLKTVDSCFQDLKESRLVEDTFT IDEVSEVLNGLQAVVHSEVESELIN TAYTNVLLLRQLFAQAEKWYLKLQT DISELENRELLEQVAEFEKAEITSS NKKPILDVTKPKLAPLNEGGTAELL NKEILRLQEENEKLKSRLKTIEIQA TNALDEKSKLEKALQDLQLDQGNQK DFIKAQDLSNLENTVAALKSEFQKT LNDKTENQKSLEENLATAKHDLLRV QEQLHMAEKELEKKFQQTAAYRNMK EILTKKNDQIKDLRKRLAQYEPEDT RTRPLEQKLISEEDLAANDILDYKD DDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
