| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | DFNB31 |
| Uniprot No | Q9P202 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-918aa |
| 氨基酸序列 | MNAQLDGLSVSSSSTGSLGSAAAAAGGGGGAGLRLLSANVRQLHQALTALLSEPEREQFTHCLNAYHARRNVFDLVRTLRVLLDSPVKRRLLPMLRLVIPRSDQLLFDQYTAEGLYLPATTPYRQPAWAAPDGAGPGEVRLVSLRRAKAHEGLGFSIRGGSEHGVGIYVSLVEPGSLAEKEGLRVGDQILRVNDKSLARVTHAEAVKALKGSKKLVLSVYSAGRIPGGYVTNHIYTWVDPQGRSTSPPSSLPQPHGSTLRQREDDRRSTLHLLQSGDEKKVNLVLGDGRSLGLTIRGGAEYGLGIYITGVDPGSEAESSGLKVGDQILEVNGRSFLNILHDEAVKLLKSSRHLILTVKDVGRLPHARTTVDQTKWIASSRIGESVANSAGFPGDHTEEGTSKPGFYKGPAGSQVTLSSLGNQTRALLDDQARHLLTEQERATMMYYLAQYRGGTISVEAMVMALFELLNTHAKFSLLSEVRSIISPQDLDRFDHLVLRREIESMKARQPPGPGVGDTYSMVSYSDTGSSTGSHGTSTTVSSARERLLWLIDLMENTLDLEGTGETTQGSTNALPDVSVDDVKSPSEDLPGIKPPPPPPPLAQGHDRLLGQPRKPGREDPAPLSSAAHSGIVFSAPRNRSPPPGTAPTPGPSSAQDSPSSPIYASISHANPSSRKPLDTHLALVNQHPIGPFPRVQSPPHLKSPPAETPGAGACLPPPSPSEHPDAVGANQHFVLVEVHRPDSEPDVNEVRALPQTRTASTLSQLSDSGQTLSEDSGVDAGETEASTSGRGRQTASAKNKNGKEQPRTERTAEGANKPPGLLEPTSTLVRVRKSAATLGIAIEGGANTRQPLPRIVTIQRGGSAHNCGQLKVGHVILEVNGQTLRGKEHKEAARIIAEAFKTKERDYIDFLVTEFNVML |
| 分子量 | 98.0 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | 0 |
| 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. |
以下是关于重组小鼠DFNB31蛋白的3篇代表性文献及摘要概括：
1. **文献名称**：Whirlin interacts with espin and modulates its actin-regulatory function: relevance to Usher syndrome type II
**作者**：Mburu P., et al.
**摘要**：该研究阐明了小鼠DFNB31编码的whirlin蛋白与espin的相互作用，揭示了其通过调控肌动蛋白组装在耳蜗毛细胞静纤毛形态发生中的作用，并解释了USH2D型耳聋的分子机制。
2. **文献名称**：Structural basis of the interaction between whirlin and PDZ domain-containing proteins in stereocilia development
**作者**：Yang J., et al.
**摘要**：通过重组表达小鼠whirlin蛋白的PDZ结构域，结合X射线晶体学分析，揭示了其与下游信号蛋白的结合模式，为DFNB31缺陷导致的听觉-视觉综合征提供结构生物学依据。
3. **文献名称**：Expression and functional analysis of whirlin in the mouse inner ear
**作者**：Adato A., et al.
**摘要**：研究通过重组DFNB31蛋白体外实验，证明whirlin在耳蜗毛细胞中参与静纤毛束的极性形成，其功能缺失导致小鼠听力障碍，与人类USH2表型高度相似。
(注：上述文献信息为模拟示例，实际文献请通过数据库如PubMed确认。)
The mouse DFNB31 protein, encoded by the Whrn gene (WHRN in humans), is associated with autosomal recessive nonsyndromic hearing loss. This protein plays a critical role in maintaining stereocilia organization in inner ear hair cells, essential for auditory function. DFNB31 contains multiple domains, including a PDZ domain and proline-rich regions, enabling interactions with cytoskeletal components like myosin XVa and scaffold proteins such as harmonin. These interactions stabilize stereocilia bundles and facilitate mechanotransduction.
Mutations in Whrn lead to hearing impairment in mice, mimicking human DFNB31-related deafness. The recombinant mouse DFNB31 protein is commonly expressed in vitro (e.g., E. coli or mammalian systems) for structural and functional studies. Researchers utilize it to dissect molecular mechanisms underlying stereocilia development, protein-protein networks, and pathogenic variants. Its recombinant form also aids in drug screening or gene therapy strategies to rescue auditory defects. Studies in Whrn-deficient mice highlight its role in ciliogenesis beyond the inner ear, linking it to retinal degeneration in Usher syndrome models. Thus, recombinant DFNB31 serves as a vital tool for understanding hereditary deafness pathways and developing therapeutic interventions.
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