Ctsl - cathepsin L Gene

中文名称：组织蛋白酶 L

种属: Mus musculus

同用名: fs; MEP; nkt; CatL; Ctsl1; 1190035F06Rik

关于 Ctsl

功能概要

该基因编码半胱氨酸蛋白酶肽酶 C1（木瓜蛋白酶）家族的成员。编码的前原蛋白经过蛋白水解处理以产生多种蛋白质产物。这些产品包括激活肽和组织蛋白酶 L1 重链和轻链。成熟的酶通过处理组蛋白 H3 似乎在胚胎发育中很重要，并且可能在肾脏疾病模型的疾病进展中发挥作用。该基因的纯合基因敲除小鼠表现出脱发、皮肤增厚、骨骼和心脏缺陷以及对细菌感染的易感性增强。已在基因组中鉴定出该基因的假基因。 [RefSeq 提供，2015 年 8 月]

This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the activation peptide and the Cathepsin L1 heavy and light chains. The mature Enzyme appears to be important in embryonic development through its processing of histone H3 and may play a role in disease progression in a model of kidney disease. Homozygous knockout mice for this gene exhibit hair loss, skin thickening, bone and heart defects, and enhanced susceptibility to Bacterial infection. A pseudogene of this gene has been identified in the genome. [provided by RefSeq, Aug 2015]