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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
TPSB2 - Tryptase Beta 2
Alias:
TPS2
tryptaseB
tryptaseC
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
胰蛋白酶是一类类似于胰蛋白酶的丝氨酸蛋白酶,属于肽酶S1家族。胰蛋白酶只有在肝素稳定化的四聚体中才具有酶活性,并且对所有的内源性蛋白酶抑制剂具有抵抗力。几个胰蛋白酶基因聚集在染色体16p13.3上。这些基因的特点是具有高度保守的3'UTR,并在5'侧翼和3'UTR含有串联重复序列,被认为在mRNA稳定性的调节中起作用。这些基因在起始Met密码子的上游有一个内含子,将转录起始位点与蛋白质编码序列分开。这一特征是胰蛋白酶所特有的,但在其他基因中并不常见。该基因的等位基因展示了大量的序列变异,以至于曾经被认为代表两个独立的基因,βII和βIII。β胰蛋白酶似乎是主要在肥大细胞中表达的主要同工酶,而在嗜碱粒细胞中,α-胰蛋白酶占主导地位。胰蛋白酶被认为参与哮喘和其他过敏和炎症性疾病的病理过程。[由RefSeq,2008年7月提供]
Related ID:
NCBI:64499
ENSEMBL:ENSG00000197253
HGNC:14120
UNIPROT:P20231
OMIM:191081
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
64499
1
6
1849 bp
30.65
19
--
3
12
TPSB2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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