中文名称:BBS10抗原(重组蛋白)
英文名称:BBS10 Antigen (Recombinant Protein)
别 名:Bardet-Biedl syndrome 10; C12orf58
相关类别:抗原
储 存:冷冻(-20℃)概述
Fusion protein corresponding to a region derived from 524-723 amino acids of human BBS10
技术规格
Full name:
Bardet-Biedl syndrome 10
Synonyms:
C12orf58
Swissprot:
Q8TAM1
Gene Accession:
BC026355
Purity:
>85%, as determined by Coomassie blue stained SDS-PAGE
Expression system:
Escherichia coli
Tags:
His tag C-Terminus, GST tag N-Terminus
Background:
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 mental retardation. 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.
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