CTSS - cathepsin S Gene

中文名称：组织蛋白酶 S

种属: Homo sapiens

关于 CTSS

功能概要

由该基因编码的前原蛋白是肽酶 C1 家族的成员，是一种溶酶体半胱氨酸蛋白酶，参与将抗原蛋白降解为肽以呈递到 MHC II 类分子上。成熟的蛋白质在内溶酶体区室中切割 MHC II 类分子的不变链，并能够形成抗原-MHC II 类复合物，并通过 MHC-II 正确展示细胞外抗原肽。成熟的蛋白质还在广泛的 pH 范围内充当弹性蛋白酶。当从细胞中分泌出来时，这种蛋白质可以重塑细胞外基质的成分，例如弹性蛋白、胶原蛋白和纤连蛋白。该基因与许多炎症和自身免疫性疾病的病理学有关，并且由于其弹性蛋白酶活性，在某些肺部疾病中起着重要作用。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2020 年 5 月]

The preproprotein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that participates in the degradation of antigenic proteins to Peptides for presentation on MHC class II molecules. The mature protein cleaves the invariant chain of MHC class II molecules in endolysosomal compartments and enables the formation of antigen-MHC class II complexes and the proper display of extracellular antigenic Peptides by MHC-II. The mature protein also functions as an Elastase over a broad pH range. When secreted from cells, this protein can remodel components of the extracellular matrix such as elastin, collagen, and fibronectin. This gene is implicated in the pathology of many inflammatory and autoimmune diseases and, given its Elastase activity, plays a significant role in some pulmonary diseases. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2020]