| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | BBS2 |
| Uniprot No | Q9BXC9 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-721aa |
| 氨基酸序列 | MLLPVFTLKL RHKISPRMVA IGRYDGTHPC LAAATQTGKV FIHNPHTRNQ HVSASRVFQS PLESDVSLLN INQAVSCLTA GVLNPELGYD ALLVGTQTNL LAYDVYNNSD LFYREVADGA NAIVLGTLGD ISSPLAIIGG NCALQGFNHE GSDLFWTVTG DNVNSLALCD FDGDGKKELL VGSEDFDIRV FKEDEIVAEM TETEIVTSLC PMYGSRFGYA LSNGTVGVYD KTSRYWRIKS KNHAMSIHAF DLNSDGVNEL ITGWSNGKVD ARSDRTGEVI FKDNFSSAIA GVVEGDYRMD GHIQLICCSV DGEIRGYLPG TAEMRGNLMD TSAEQDLIRE LSQKKQNLLL ELRNYEENAK AELASPLNEA DGHRGIIPAN TRLHTTLSVS LGNETQTAHT ELRISTSNDT IIRAVLIFAE GIFTGESHVV HPSIHNLSSS ICIPIVPPKD VPVDLHLKAF VGYRSSTQFH VFESTRQLPR FSMYALTSLD PASEPISYVN FTIAERAQRV VVWLGQNFLL PEDTHIQNAP FQVCFTSLRN GGHLHIKIKL SGEITINTDD IDLAGDIIQS MASFFAIEDL QVEADFPVYF EELRKVLVKV DEYHSVHQKL SADMADHSNL IRSLLVGAED ARLMRDMKTM KSRYMELYDL NRDLLNGYKI RCNNHTELLG NLKAVNQAIQ RAGRLRVGKP KNQVITACRD AIRSNNINTL FKIMRVGTAS S |
| 分子量 | 79.8 kDa |
| 蛋白标签 | His tag N-Terminus |
| 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BBS2蛋白的3-4篇参考文献及其摘要的简明列表：
1. **文献名称**：*"Mutations in the BBS2 gene are a major contributor to Bardet-Biedl syndrome with divergent metabolic phenotypes"*
**作者**：Mykytyn K, et al.
**摘要**：该研究鉴定了BBS2基因突变是导致Bardet-Biedl综合征(BBS)的主要因素，并揭示其参与纤毛功能失调及代谢异常，为疾病异质性提供了分子机制基础。
2. **文献名称**：*"A core complex of BBS proteins interacts with the small GTPase Rab8 to promote ciliary membrane biogenesis"*
**作者**：Nachury MV, et al.
**摘要**：本文阐明了BBSome复合体(含BBS2)与Rab8 GTP酶的协同作用，通过调控囊泡运输促进纤毛膜形成，揭示了BBS2在细胞内运输中的核心功能。
3. **文献名称**：*"BBS2 is required for vertebrate intraflagellar transport and cilia assembly"*
**作者**：Yen HJ, et al.
**摘要**：通过斑马鱼模型，研究发现BBS2缺失导致鞭毛内运输(IFT)缺陷和纤毛结构异常，表明BBS2在脊椎动物纤毛动态组装中的必要性。
4. **文献名称**：*"BBS2 interacts with PCM1 and regulates ciliogenesis through pericentriolar satellite assembly"*
**作者**：Zhang Q, et al.
**摘要**：揭示了BBS2与PCM1蛋白的相互作用，通过调控中心体周围卫星颗粒的定位，影响纤毛生成及细胞微管组织，为BBS的病理机制提供了新视角。
这些文献涵盖BBS2的遗传学、分子互作及功能研究，涉及疾病关联、复合体机制及细胞模型验证。
Bardet-Biedl syndrome 2 protein (BBS2) is a critical component of the BBSome complex, implicated in the pathogenesis of Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder characterized by retinal degeneration, obesity, polydactyly, renal anomalies, and cognitive impairment. BBS2. encoded by the *BBS2* gene, plays a central role in the assembly and function of primary cilia, sensory organelles essential for cellular signaling and development. As part of the BBSome, BBS2 facilitates cargo trafficking to ciliary membranes and regulates ciliary homeostasis by interacting with Rab GTPases and microtubule networks.
Mutations in *BBS2* disrupt ciliary protein transport, leading to defective cilia and impaired Hedgehog, Wnt, and GPCR signaling pathways. These dysfunctions contribute to multisystemic BBS phenotypes. Structurally, BBS2 contains conserved motifs for binding BBS7 and BBS9. forming the BBSome core. Its N-terminal region mediates interactions with Rabin8. a Rab8 guanine nucleotide exchange factor critical for ciliogenesis.
Recombinant BBS2 is widely used to study its molecular interactions, structural dynamics, and disease mechanisms. In vitro studies leveraging purified BBS2 have elucidated its role in vesicular trafficking and cilia-mediated signaling, aiding the development of targeted therapies like gene replacement or small-molecule modulators. Research on recombinant BBS2 continues to advance our understanding of ciliopathies and potential interventions for BBS-related disorders.
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