| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | BBS12 |
| Uniprot No | Q6ZW61 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-710aa |
| 氨基酸序列 | MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESLDLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGLNFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVASQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTCCRQSILIHSRHFNRTDNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQQGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIEGDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSERLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLDVVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGGAVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLSTLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIPRVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL |
| 分子量 | 105.5 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 冻干粉 |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于重组人Bardet-Biedl综合征12蛋白(BBS12)的参考文献示例，包括文献名称、作者及摘要内容的简要概括：
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1. **文献名称**：*BBS12 encodes a vertebrate-specific chaperonin-like protein involved in Bardet-Biedl syndrome*
**作者**：Stoetzel, C. et al.
**摘要**：该研究首次克隆了人BBS12基因，发现其编码的蛋白属于分子伴侣蛋白家族，与BBSome复合体相互作用。通过体外重组表达实验，揭示了BBS12在调控纤毛形成和蛋白质折叠中的关键作用，其突变可导致BBS患者的典型表型，如肥胖和视网膜变性。
2. **文献名称**：*Structural insights into the BBS12-BBS10 chaperonin complex in Bardet-Biedl syndrome*
**作者**：Zhang, Q. et al.
**摘要**：通过重组表达BBS12与BBS10蛋白并解析其复合物结构，研究发现两者形成异源二聚体，作为分子伴侣参与其他BBS蛋白的正确折叠。该复合物结构缺陷会破坏纤毛信号传导，阐明了BBS发病的分子机制。
3. **文献名称**：*Functional analysis of BBS12 mutations using recombinant protein models in zebrafish*
**作者**：Heon, E. et al.
**摘要**：研究利用重组人BBS12蛋白在斑马鱼模型中功能回补实验，证实多个临床突变体(如p.R120X)导致蛋白稳定性降低，进而引发纤毛功能障碍和胚胎发育异常，为基因型-表型关联提供了实验依据。
4. **文献名称**：*BBS12 regulates mitochondrial dynamics through interaction with the fission/fusion machinery*
**作者**：Seo, S. et al.
**摘要**：通过重组BBS12蛋白的体外细胞实验，发现其与线粒体分裂蛋白Drp1直接结合，调控线粒体形态和能量代谢。该研究拓展了BBS12在代谢紊乱中的作用，解释了BBS患者中常见肥胖和胰岛素抵抗的潜在机制。
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以上文献示例综合涵盖了BBS12的结构、功能、疾病机制及模型研究，假设性内容基于已知的BBS蛋白生物学背景整合而成。实际文献需通过学术数据库检索确认。
Bardet-Biedl syndrome 12 protein (BBS12) is a key component of the BBSome complex, a group of proteins associated with Bardet-Biedl syndrome (BBS), a rare autosomal recessive ciliopathy. Characterized by retinal degeneration, obesity, renal abnormalities, polydactyly, and cognitive impairment, BBS arises from defects in genes encoding proteins involved in cilia function and intraflagellar transport. BBS12. encoded by the *BBS12* gene on chromosome 4q27. is part of the chaperonin-like BBSome assembly group. It facilitates the structural organization of the BBSome, a protein complex critical for ciliary membrane biogenesis, cargo trafficking, and signaling. Mutations in *BBS12* disrupt these processes, leading to ciliary dysfunction and multisystemic manifestations.
Recombinant BBS12 protein, produced via heterologous expression systems (e.g., *E. coli* or mammalian cells), is utilized to study its biochemical properties, interaction networks, and pathogenic mechanisms. Structural studies reveal BBS12's role in stabilizing the BBSome and mediating interactions with Rab8. a GTPase essential for ciliary membrane expansion. Research on recombinant BBS12 also aids in developing therapeutic strategies, including gene therapy or molecular chaperones, to restore ciliary function in BBS patients. Its study contributes to understanding cilia-related pathways and broader cellular processes implicated in metabolic and developmental disorders.
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