菜单 基因医生

该基因编码枯草杆菌素样前蛋白转化酶家族的一个成员，该家族包括通过分泌途径的调节分支或组成分支处理蛋白质和肽前体贩运的蛋白酶它编码1型膜结合蛋白酶，在许多组织中表达，包括神经内分泌、肝脏、肠道和大脑。编码的蛋白质在内质网中经历一个初始的自催化处理事件，然后通过内质体分类到反高尔基网络，在那里发生第二个自催化事件并获得催化活性。该基因编码七个碱性氨基酸特异性成员中的一个，这些成员在单个或成对的碱性残基上切割其底物它可以处理前白蛋白，并被认为负责激活hiv包膜糖蛋白gp160和gp140。该基因参与了家政基因的转录调控，并在铁代谢的调控中发挥作用与B细胞淋巴瘤相关的t（11；14）（q23；q32）染色体易位发生在该基因与倒位基因之间[由RefSeq提供，2014年2月]
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]