因SLC39A8-CDG的糖基化异常是继发与半乳糖糖基化障碍,有报道补充半乳糖或半乳糖+尿苷(Uridine)可以改善转铁蛋白糖基化。近期研究还发现补充硫酸锰后SLC39A8-CDG患者不仅血清转铁蛋白糖基化、血清锰离子和尿锰离子水平得以改善,运动障碍、共济失调、肌力不足、体位控制异常、癫痫、视力障碍、听力异常及吞咽困难等异...
一项研究探索用大剂量锰元素(硫酸锰)治疗2例SLC39A8先天性糖基化障碍患者,监测糖基化指标、血锰水平和脑核磁共振,希望能改善临床表现以及化验指标。脑核磁共振是监测锰治疗的潜在副作用或锰中毒(锰中毒时可能会豆状核和尾状核T1高信号)。治疗以后监测的酶活性指标恢复正常,包括运动功能、听力和其他神经系统异常等临...
根据《人的基因序列变化与人体疾病表征》,过去有部分机构和医务人员认为SLC39A8缺陷不是遗传性疾病,甚至有人认为该病不是由基因引起的,SLC39A8缺陷发生的内在基因原因被忽视。佳学基因通过基因解码找到并定位了导致这一疾病发生的原因,提出了SLC39A8缺陷的遗传风险,并建议通过基因检测明确和排除风险,让后代、二胎不再...
《基于生物信息学的香豆雌酚靶向SLC39A8抑制人结直肠癌细胞增殖的作用机制研究》篇一一、引言结直肠癌(CRC)是全球范围内最常见的恶性肿瘤之一,其发病率和死亡率均居高不下。尽管现代医学在结直肠癌的诊断和治疗方面取得了显著进展,但仍然需要寻找新的治疗策略和药物来提高治疗效果和患者生存率。近年来,基于生物信息学...
基因别名: BIGM103; CDG2N; LZT-Hs6; PP3105; SLC39A8; ZIP8 UniProt ID: (Human) Q9C0K1 Entrez Gene ID: (Human) 64116 功能 zinc ion transmembrane transporter activity secondary carrier transporter 参与通路 zinc II ion transport cellular zinc ion homeostasis cadmium ion transmembrane tran...
In conclusion, SLC39A8 p.Ala391Thr is associated with biochemical and imaging markers of hepatic inflammation, but the variant does not confer a higher risk of chronic liver disease. We hypothesize that the associations with hepatic imaging traits are due to lower hepatic manganese levels in ...
SLC39A8 导读 基因简介 中英文全称:溶质载体家族39(锌转运蛋白), 成员8 solute carrier family 39 (zinc transporter), member 8 OMIM/位置:608732 4q22-q24
Slc39a8 encodes ZIP8, a divalent cation/bicarbonate symporter expressed in pluripotent mouse embryonic stem cells, and therefore ubiquitous in adult tissues; ZIP8 influxes Zn2+, Mn2+ and Fe2+. Slc39a8(neo/neo) knockdown mice exhibit 10–15% of wild-type
© American College of Medical Genetics and Genomics ORIGINAL RESEARCH ARTICLE SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy Julien H. Park1, Max Hogrebe1, Manfred Fobker, PhD2, Renate Brackmann, MD3, Barbara Fiedler, MD1, Janine Reunert, PhD1, ...
提供的SLC39A8 多克隆抗体为兔来源的多抗。SLC39A8 又称BIGM103|LZT-Hs6|PP3105|ZIP8,其基因全名为solute carrier family 39 (zinc transporter), member 8,蛋白号为NP_071437。应用类型 ELISA,WB-Ti免疫原 请参考具体产品说明书。来源宿主 兔反应性 人保存建议 建议在您收到SLC39A8 多克隆抗体产品后将其...