Analytical Data
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Gene name
BBS12
- Application
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Alternative Names
Bardet Biedl syndrome 12 Protein; Bardet-Biedl syndrome 12 (human); Bardet-Biedl syndrome 12 Protein
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Species
Human
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Source
E. coli
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Tag
GST-tag at N-terminal
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Purity
Greater than 90% as determined by SDS-PAGE.
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Uniprot
Q6ZW61
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Expression Region
1-710aa
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AA Sequence
MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESLDLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGLNFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVASQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTCCRQSILIHSRHFNRTDNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQQGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIEGDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSERLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLDVVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGGAVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLSTLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIPRVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL
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Molecular Weight
105.5 kDa
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Endotoxin
< 1.0 EU per μg protein as determined by the LAL method.
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Form
Freeze-dried powder
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Buffer formulation
PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.
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Reconstitution
Reconstitute in ddH2O to a concentration of 0.1-0.5 mg/mL. Do not vortex.
- Customization
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Stability Test
The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37℃ for 48h, and no obvious degradation and precipitation were observed. The loss rate isless than 8% within the expiration date under appropriate storage condition.
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Storage & Shelf Life
Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
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Shipping
In general, recombinant proteins are supplied as lyophilized powder and shipped at ambient temperature. For bulk packages, the proteins are provided as frozen liquid and shipped with blue ice, unless otherwise requested by the customer.
Quality inspection process
Related Products
Protein Description
BBS12, or Bardet-Biedl syndrome 12, is a protein that plays a critical role in the pathogenesis of Bardet-Biedl syndrome (BBS), a genetic disorder characterized by obesity, retinal degeneration, polydactyly, renal abnormalities, and intellectual disabilities. Research into BBS12 is essential as it contributes to the understanding of the molecular mechanisms underlying BBS and related ciliopathies. BBS proteins, including BBS12, are integral to the assembly and maintenance of the BBSome, a protein complex involved in the transport of signaling proteins within cilia, cellular organelles that play pivotal roles in various signaling pathways. Deficiencies or mutations in BBS12 disrupt BBSome formation and ciliary function, resulting in the phenotypic manifestations of BBS. Recent studies have focused on elucidating the structure and function of BBS12, utilizing techniques such as crystallography and cryo-electron microscopy to understand its role within the BBSome. Additionally, investigations into the interactions between BBS12 and other BBS proteins have shed light on the cooperative mechanisms that govern ciliary transport and function. Overall, understanding BBS12’s role in BBS not only advances the field of genetics and molecular biology but also has potential implications for therapeutic strategies aimed at mitigating the symptoms of this complex syndrome and improving patient outcomes.
