TPSB2 - tryptase beta 2 Gene

中文名称：类胰蛋白酶 2

种属: Homo sapiens

同用名: TPS2; tryptaseB; tryptaseC

关于 TPSB2

功能概要

类胰蛋白酶包含胰蛋白酶样丝氨酸蛋白酶家族，即肽酶家族 S1。类胰蛋白酶仅作为肝素稳定的四聚体具有酶促活性，并且它们对所有已知的内源性蛋白酶抑制剂具有抗性。几个类胰蛋白酶基因聚集在染色体 16p13.3 上。这些基因具有几个不同的特征。它们具有高度保守的 3' UTR，并在 5' 侧翼和 3' UTR 处包含串联重复序列，这些序列被认为在调节 mRNA 稳定性方面发挥作用。这些基因在启动子 Met 密码子的上游有一个内含子，它将转录起始位点与蛋白质编码序列分开。此功能是类胰蛋白酶的特征，但在其他基因中并不常见。该基因的等位基因表现出异常数量的序列变异，以至于这些等位基因曾被认为代表两个独立的基因，即 beta II 和 beta III。 β 类胰蛋白酶似乎是肥大细胞中表达的主要同工酶，而在嗜碱性粒细胞中，α 类胰蛋白酶占主导地位。类胰蛋白酶被认为是哮喘和其他过敏性和炎症性疾病发病机制中的介质。[RefSeq 提供，2008 年 7 月]

Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]