| Cat.No. : | BBS10-4287H |
| Product Overview : | Human FLJ23560 full-length ORF ( AAH13795.1, 1 a.a. - 151 a.a.) recombinant protein with GST-tag at N-terminal. |
| Description : | This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] |
| Source : | Wheat Germ |
| Species : | Human |
| Tag : | GST |
| Molecular Mass : | 43.2 kDa |
| AA Sequence : | MLPVSCKLPNMGTSQSYLSSSMPAGCVLPVGGNFEILLHYYLLNYAKKCHQSEETMVSMIIANALLGIPKVLYKSKTGKYSFPHTYIRAVHALQTNQPLVSSQTGLESVMGKYQLLTSVLQCLTKILTIDMVITVKRHPQKVHNQDSEDEL |
| Applications : | Enzyme-linked Immunoabsorbent Assay Western Blot (Recombinant protein) Antibody Production Protein Array |
| Notes : | Best use within three months from the date of receipt of this protein. |
| Storage : | Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing. |
| Storage Buffer : | 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
| Gene Name : | BBS10 Bardet-Biedl syndrome 10 [ Homo sapiens (human) ] |
| Official Symbol : | BBS10 |
| Synonyms : | BBS10; Bardet-Biedl syndrome 10; C12orf58; Bardet-Biedl syndrome 10 protein |
| Gene ID : | 79738 |
| mRNA Refseq : | NM_024685 |
| Protein Refseq : | NP_078961 |
| MIM : | 610148 |
| UniProt ID : | Q8TAM1 |
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