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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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人类
TPSAB1 - Tryptase Alpha/beta 1
Alias:
TPS1
TPS2
TPSB1
TPSB2
Tryptase-2
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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,属于肽酶家族S1。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。这些基因具有几个显著特征,包括高度保守的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。这个特征是胰蛋白酶的特征,但在其他基因中是不寻常的。这个基因的等位基因展示了大量不寻常的序列变异,以至于这些等位基因曾被认为代表两个独立的基因,α和β1。β胰蛋白酶似乎是主要存在于肥大细胞中的异构酶;而在嗜碱粒细胞中,α胰蛋白酶占优势。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:7177
ENSEMBL:ENSG00000172236
HGNC:12019
UNIPROT:Q15661
OMIM:191080
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7177
1
6
1850 bp
30.52
53
--
3
15
TPSAB1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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