BBS10 (NM 024685) Humaan Recombinant eiwit

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]

Purified recombinant protein of Human Bardet-Biedl syndrome 10 (BBS10), Ser349-Thr534, with N-terminal His tag, expressed in E. coli, 50ug

C12orf58

79738

Q8TAM1

NM_024685

12q21.2

E. coli

N-His

>50 ug/mL as determined by microplate BCA method

> 80% as determined by SDS-PAGE and Coomassie blue staining

Liquid

50mM Tris, 8M Urea, pH8.0

20.9 kDa

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

BBS10

Human

NP_078961

https://www.ncbi.nlm.nih.gov/gene/79738

https://www.uniprot.org/uniprot/Q8TAM1

https://www.ncbi.nlm.nih.gov/nuccore/NM_024685

https://www.ncbi.nlm.nih.gov/nuccore/NP_078961