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。 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。 胱抑素B已被证明与组织蛋白酶B产生交互作用。 與血清胱抑素B相關的疾病；在維基數據上查看/編輯參考.  GRCh38: Ensembl release 89: ENSG00000160213 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000005054 - Ensembl, May 2017 Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.  Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.  Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science. Apr 1996, 271 (5256): 1731–4. 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S2CID 24971949. doi:10.1038/ng0497-393.  Bespalova IN, Adkins S, Pranzatelli M, Burmeister M. Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. (PDF). Am. J. Med. Genet. 1997, 74 (5): 467–71. PMID 9342192. doi:10.1002/(SICI)1096-8628(19970919)74:5<467::AID-AJMG1>3.0.CO;2-L. hdl:2027.42/38271 .  GeneReviews/NCBI/NIH/UW entry on Unverricht-Lundborg Disease or EPM1 （页面存档备份，存于互联网档案馆） The MEROPS online database for peptidases and their inhibitors: I25.003[失效連結] PDBe-KB （页面存档备份，存于互联网档案馆） provides an overview of all the structure information available in the PDB for Human Cystatin-B