| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | BTBD9 |
| Uniprot No | Q96Q07 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-612aa |
| 氨基酸序列 | MSNSHPLRPF TAVGEIDHVH ILSEHIGALL IGEEYGDVTF VVEKKRFPAH RVILAARCQY FRALLYGGMR ESQPEAEIPL QDTTAEAFTM LLKYIYTGRA TLTDEKEEVL LDFLSLAHKY GFPELEDSTS EYLCTILNIQ NVCMTFDVAS LYSLPKLTCM CCMFMDRNAQ EVLSSEGFLS LSKTALLNIV LRDSFAAPEK DIFLALLNWC KHNSKENHAE IMQAVRLPLM SLTELLNVVR PSGLLSPDAI LDAIKVRSES RDMDLNYRGM LIPEENIATM KYGAQVVKGE LKSALLDGDT QNYDLDHGFS RHPIDDDCRS GIEIKLGQPS IINHIRILLW DRDSRSYSYF IEVSMDELDW VRVIDHSQYL CRSWQKLYFP ARVCRYIRIV GTHNTVNKIF HIVAFECMFT NKTFTLEKGL IVPMENVATI ADCASVIEGV SRSRNALLNG DTKNYDWDSG YTCHQLGSGA IVVQLAQPYM IGSIRLLLWD CDDRSYSYYV EVSTNQQQWT MVADRTKVSC KSWQSVTFER QPASFIRIVG THNTANEVFH CVHFECPEQQ SSQKEENSEE SGTGDTSLAG QQLDSHALRA PSGSSLPSSP GSNSRSPNRQ HQ |
| 分子量 | 69.1 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BTB/POZ结构域含蛋白9(BTBD9)的参考文献及摘要概括：
1. **《BTBD9 regulates dopaminergic signaling and risk of restless legs syndrome》**
- **作者**: DeAndrade et al.
- **摘要**: 该研究发现BTBD9基因变异与不宁腿综合征(RLS)风险相关。通过小鼠模型显示，BTBD9缺失导致多巴胺D2受体信号通路异常，并引发类似RLS的运动行为表型，提示其在神经信号调控中的作用。
2. **《BTBD9 mediates non-canonical autophagy-lysosomal pathways in iron metabolism》**
- **作者**: Silvaggi et al.
- **摘要**: 研究揭示了BTBD9通过与溶酶体相关蛋白相互作用，调控细胞铁稳态的分子机制，其功能缺失会导致铁代谢紊乱，可能解释RLS与铁缺乏之间的关联。
3. **《Structural insights into BTBD9-Cul3 ubiquitin ligase complex assembly》**
- **作者**: Xu et al.
- **摘要**: 通过X射线晶体学解析BTBD9与Cul3泛素连接酶复合物的结构，阐明其BTB结构域介导的蛋白互作模式，为靶向BTBD9的疾病治疗提供结构基础。
4. **《Sleep modulation by BTBD9 in Drosophila models》**
- **作者**: Freeman et al.
- **摘要**: 在果蝇模型中，BTBD9基因敲除显著影响睡眠-觉醒周期，表明其在昼夜节律和睡眠调控中的保守功能，可能与哺乳动物睡眠障碍病理相关。
这些研究从遗传关联、分子机制、结构生物学及动物模型角度，探讨了BTBD9在疾病、代谢和神经功能中的作用。
BTBD9 (BTB/POZ domain-containing protein 9) is a member of the BTB/POZ protein family, characterized by a conserved N-terminal BTB (Broad-Complex, Tramtrack, and Bric-à-brac) domain involved in protein-protein interactions and transcriptional regulation. Predominantly expressed in the nervous system, BTBD9 has been linked to neurological functions, particularly motor control and sleep regulation. Genetic studies associate BTBD9 variants with restless legs syndrome (RLS), a sensorimotor disorder, as well as iron deficiency anemia and sleep-related movement behaviors. Genome-wide association studies (GWAS) highlight BTBD9 as a susceptibility locus for RLS, though the precise mechanisms remain unclear. Animal models, including BTBD9 knockout mice, exhibit sleep fragmentation, altered locomotion, and reduced brain iron levels, mirroring aspects of human RLS pathology. Proposed molecular roles include modulating synaptic transmission, dopamine signaling, and iron metabolism, potentially through interactions with ubiquitination pathways or circadian rhythm regulators. Despite its unclear biochemical function, BTBD9’s involvement in critical cellular processes and disease pathways positions it as a target for exploring neurological and sleep-related disorders. Current research focuses on deciphering its molecular interactions, regulatory networks, and therapeutic potential.
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