| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | WBSCR17 |
| Uniprot No | Q6IS24 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-598 aa |
| 活性数据 | MASLRRVKVLLVLNLIAVAGFVLFLAKCRPIAVRSGDAFHEIRPRAEVANLSAHSASPIQDAVLKRLSLLEDIVYRQLNGLSKSLGLIEGYGGRGKGGLPATLSPAEEEKAKGPHEKYGYNSYLSEKISLDRSIPDYRPTKCKELKYSKDLPQISIIFIFVNEALSVILRSVHSAVNHTPTHLLKEIILVDDNSDEEELKVPLEEYVHKRYPGLVKVVRNQKREGLIRARIEGWKVATGQVTGFFDAHVEFTAGWAEPVLSRIQENRKRVILPSIDNIKQDNFEVQRYENSAHGYSWELWCMYISPPKDWWDAGDPSLPIRTPAMIGCSFVVNRKFFGEIGLLDPGMDVYGGENIELGIKVWLCGGSMEVLPCSRVAHIERKKKPYNSNIGFYTKRNALRVAEVWMDDYKSHVYIAWNLPLENPGIDIGDVSERRALRKSLKCKNFQWYLDHVYPEMRRYNNTVAYGELRNNKAKDVCLDQGPLENHTAILYPCHGWGPQLARYTKEGFLHLGALGTTTLLPDTRCLVDNSKSRLPQLLDCDKVKSSLYKRWNFIQNGAIMNKGTGRCLEVENRGLAGIDLILRSCTGQRWTIKNSIK |
| 分子量 | 94.2 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 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WBSCR17蛋白的假设参考文献示例(注：实际文献可能有限，以下内容基于相关领域研究方向的合理推测)：
1. **文献名称**：*"Recombinant human WBSCR17 exhibits glycosyltransferase activity in vitro"*
**作者**：Zhang Y. et al. (2018)
**摘要**：研究通过大肠杆菌系统表达并纯化重组WBSCR17蛋白，验证其作为糖基转移酶的活性，发现其能催化特定糖基转移反应，暗示其在细胞糖代谢中的潜在作用。
2. **文献名称**：*"Functional analysis of WBSCR17 in cell adhesion using recombinant protein"*
**作者**：Tamura K. et al. (2015)
**摘要**：利用重组WBSCR17蛋白进行功能研究，发现其通过调节细胞表面糖基化影响细胞粘附，可能与Williams综合征相关的发育异常有关。
3. **文献名称**：*"Structural insights into the catalytic mechanism of WBSCR17"*
**作者**：Lee S. & Kim H. (2021)
**摘要**：通过X射线晶体学解析重组人WBSCR17的蛋白结构，揭示其活性位点特征，为理解其酶学机制及疾病相关突变提供依据。
4. **文献名称**：*"WBSCR17 deficiency impairs synaptic protein glycosylation in neuronal models"*
**作者**：Micale L. et al. (2013)
**摘要**：研究使用重组WBSCR17蛋白挽救基因敲除细胞模型的表型，证实其在神经元突触蛋白糖基化中的关键作用，关联Williams综合征的神经病理学。
**注意**：WBSCR17蛋白因位于Williams-Beuren综合征(7q11.23缺失)染色体区域而受到关注，但针对其重组蛋白的直接实验研究相对有限，建议通过PubMed或Google Scholar结合关键词(如“WBSCR17 recombinant”或“WBSCR17 glycosyltransferase”)检索最新文献以获取准确信息。
WBSCR17 (Williams-Beuren syndrome chromosomal region 17) protein is a human protein encoded by the WBSCR17 gene located within the 7q11.23 chromosomal region. This genomic region is associated with Williams-Beuren syndrome (WBS), a rare neurodevelopmental disorder characterized by cardiovascular abnormalities, distinctive facial features, and cognitive-linguistic traits. The WBSCR17 gene spans approximately 150 kb and consists of 26 exons, encoding a 1.170-amino-acid transmembrane protein with a predicted molecular weight of ~130 kDa. Structural analyses suggest it contains multiple N-glycosylation sites, a signal peptide, and a conserved PAN/Apple domain, indicative of potential roles in protein-protein interactions or extracellular signaling.
Although its precise biological function remains poorly characterized, WBSCR17 is postulated to participate in cellular adhesion, glycosylation processes, or intercellular communication. Expression profiling shows wide tissue distribution, with higher levels in the brain, testes, and endocrine tissues. Unlike other WBS-critical genes (e.g., ELN, LIMK1), WBSCR17 deletions in WBS patients do not directly correlate with core phenotypic features, suggesting auxiliary or compensatory roles. Emerging studies link WBSCR17 to cancer progression, particularly in hepatocellular carcinoma, where its overexpression may promote metastasis. Evolutionary conservation analyses reveal no clear orthologs in non-mammalian species, complicating functional studies. Current research focuses on elucidating its molecular interactions and pathophysiological relevance beyond WBS.
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