PCSK9

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 autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

本基因编码一种属于子酶样前体蛋白转换酶家族的成员，该家族包括处理通过调节性或组成性分泌途径的蛋白质和肽前体的蛋白酶。编码的蛋白质在糙面内质网中进行自催化加工，并以非活性蛋白酶的形式持续分泌到细胞外基质和转高尔基网络中。该蛋白质在肝脏、肠道和肾脏组织中表达，并携带负责溶酶体降解的特异性受体。它在胆固醇和脂肪酸代谢中发挥着重要作用。该基因的突变与常染色体显性家族高胆固醇血症相关。可变剪接导致多种转录本变体。[由RefSeq提供，2014年2月]