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编码的蛋白质经历ER中的初始自催化处理事件以产生异源二聚体，该异源二聚体退出ER并排序到第二次自催化事件发生的反式高尔基网络，并获得催化活性。编码的蛋白酶组成性地分泌到细胞外基质中，并在许多组织中表达，包括神经内分泌、肝脏、肠道和大脑。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的一些底物包括转化生长因子β相关蛋白、前白蛋白和血管性血友病因子。这种基因被认为在肿瘤进展和左右模式中起作用。另外，还发现了编码不同亚型的剪接转录变体。[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. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]