纯度 | >90%SDS-PAGE. |
种属 | Human |
靶点 | FAM20A |
Uniprot No | Q96MK3 |
内毒素 | < 0.01EU/μg |
表达宿主 | E.coli |
表达区间 | 34-541aa |
氨基酸序列 | QLRPRERPRGCPCTGRASSLARDSAAAASDPGTIVHNFSRTEPRTEPAGGSHSGSSSKLQALFAHPLYNVPEEPPLLGAEDSLLASQEALRYYRRKVARWNRRHKMYREQMNLTSLDPPLQLRLEASWVQFHLGINRHGLYSRSSPVVSKLLQDMRHFPTISADYSQDEKALLGACDCTQIVKPSGVHLKLVLRFSDFGKAMFKPMRQQRDEETPVDFFYFIDFQRHNAEIAAFHLDRILDFRRVPPTVGRIVNVTKEILEVTKNEILQSVFFVSPASNVCFFAKCPYMCKTEYAVCGNPHLLEGSLSAFLPSLNLAPRLSVPNPWIRSYTLAGKEEWEVNPLYCDTVKQIYPYNNSQRLLNVIDMAIFDFLIGNMDRHHYEMFTKFGDDGFLIHLDNARGFGRHSHDEISILSPLSQCCMIKKKTLLHLQLLAQADYRLSDVMRESLLEDQLSPVLTEPHLLALDRRLQTILRTVEGCIVAHGQQSVIVDGPVEQLAPDSGQANLTS |
预测分子量 | 59.6kDa |
蛋白标签 | His tag N-Terminus |
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FAM20A重组蛋白的3篇参考文献及其摘要概括:
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1. **文献名称**: "FAM20A binds to and regulates FAM20C protein phosphatase activity"
**作者**: Cui J, et al.
**摘要**: 本研究揭示FAM20A作为FAM20C(分泌途径的关键磷酸化激酶)的调控伴侣,通过重组蛋白实验证明两者直接结合,并增强FAM20C对底物(如骨桥蛋白)的磷酸化活性,提示其在矿化组织发育中的协同作用。
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2. **文献名称**: "Loss of FAM20A causes enamel defects via dysregulated phosphorylation"
**作者**: Wang SK, et al.
**摘要**: 通过构建Fam20a基因敲除小鼠模型,发现FAM20A缺失导致牙釉质发育不全。重组蛋白分析表明,FAM20A通过调控FAM20C的底物特异性磷酸化,影响釉原蛋白加工及矿化过程,揭示了其在遗传性釉质缺陷疾病中的机制。
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3. **文献名称**: "FAM20A mutations associated with enamel renal syndrome"
**作者**: Vieira AR, et al.
**摘要**: 研究报道了FAM20A基因突变导致釉质-肾综合征患者的临床特征。通过体外表达突变型重组蛋白,发现其无法正常结合FAM20C,导致细胞内磷酸化信号紊乱,阐明了该疾病的分子病理机制。
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4. **文献名称**: "Structural insights into the pseudo-kinase domain of FAM20A"
**作者**: Xiao J, et al.
**摘要**: 利用重组FAM20A蛋白进行晶体结构解析,发现其假激酶结构域虽缺乏催化活性,但具有独特的底物结合口袋,可能通过构象变化调控FAM20C的活性,为靶向FAM20A的小分子设计提供结构基础。
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以上研究聚焦于FAM20A的分子功能、疾病关联及结构特征,均涉及重组蛋白技术的应用。
FAM20A (Family with sequence similarity 20 member A) is a secreted protein belonging to the FAM20 family, which includes FAM20B and FAM20C. It has gained attention due to its critical roles in biomineralization and cellular signaling. FAM20A is primarily recognized as a regulatory partner of FAM20C, a kinase responsible for phosphorylating secretory pathway proteins. While FAM20C phosphorylates substrates like SIBLING proteins (e.g., osteopontin), FAM20A enhances FAM20C’s kinase activity, suggesting a chaperone-like function in modulating extracellular phosphorylation events.
Mutations in the FAM20A gene are linked to autosomal recessive disorders such as amelogenesis imperfecta (AI) and Raine syndrome, characterized by defective enamel formation, abnormal bone mineralization, and craniofacial malformations. These conditions underscore its importance in dental and skeletal development. Studies indicate FAM20A influences calcium-phosphate homeostasis and interacts with pathways involving Wnt and FGF signaling, though its precise molecular mechanisms remain under investigation.
Recombinant FAM20A protein is produced using expression systems (e.g., mammalian, insect cells) to ensure proper post-translational modifications. This engineered protein serves as a vital tool for studying FAM20A-FAM20C interactions, substrate specificity, and its role in mineralization processes. Researchers utilize it in cell-based assays, animal models, and structural studies to dissect its functional domains and pathological variants. Additionally, recombinant FAM20A holds potential for therapeutic exploration, particularly in regenerative dentistry or disorders linked to biomineralization defects. Its application extends to drug screening platforms aiming to identify modulators of FAM20 family activity. Ongoing research continues to unravel its broader biological significance beyond mineralized tissues, including possible roles in cancer and kidney function.
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