胱抑素B
胱抑素B(英文:Cystatin-B)是一种在人体中由CSTB基因编码的蛋白质。[6][7]
血清胱抑素B | |||||||||||||||||||||||||
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識別號 | |||||||||||||||||||||||||
别名 | CSTB;, CST6, EPM1, EPM1A, PME, STFB, ULD, Cystatin B, CPI-B | ||||||||||||||||||||||||
外部ID | OMIM:601145 MGI:109514 HomoloGene:79 GeneCards:CSTB | ||||||||||||||||||||||||
相關疾病 | |||||||||||||||||||||||||
Unverricht-Lundborg syndrome[1] | |||||||||||||||||||||||||
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RNA表达模式 | |||||||||||||||||||||||||
查阅更多表达数据 | |||||||||||||||||||||||||
直系同源 | |||||||||||||||||||||||||
物種 | 人類 | 小鼠 | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
UniProt | |||||||||||||||||||||||||
mRNA序列 | |||||||||||||||||||||||||
蛋白序列 | |||||||||||||||||||||||||
基因位置(UCSC) | Chr 21: 43.77 – 43.78 Mb | Chr 10: 78.26 – 78.26 Mb | |||||||||||||||||||||||
PubMed查找 | [4] | [5] | |||||||||||||||||||||||
維基數據 | |||||||||||||||||||||||||
胱抑素超家族包括含有多个胱抑素样序列的蛋白质。一些成员是活性半胱氨酸蛋白酶抑制剂,而其他成员已经失去或可能从未获得这种抑制活性。超家族中有3个抑制家族,包括1型胱抑素(stefin)、2型胱抑素和激肽原。该基因编码一种作为细胞内半胱氨酸蛋白酶抑制剂而起作用的stefin。胱抑素B能够形成由非共价作用力稳定的二聚体,抑制木瓜蛋白酶和组织蛋白酶L1、H和B。胱抑素B被认为在防止蛋白酶从溶酶体泄漏方面发挥作用。有证据表明,该基因突变是导致进行性肌阵挛性癫痫患者出现主要缺陷的原因。[7]
参考文献
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