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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
TPSG1 - Tryptase Gamma 1
Alias:
TMT
trpA
PRSS31
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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,并且它们对所有的内源性蛋白酶抑制剂都有抵抗力。几个胰蛋白酶基因聚集在染色体16p13.3上。这个簇中的基因数量尚不确定。目前已经确定了四个功能基因——αI、βI、βII和γI——其中βI有一个等位基因变异体αII,βII有一个等位基因变异体βIII,γI有一个等位基因变异体γII。β胰蛋白酶似乎主要是主要在肥大细胞中表达;而在嗜碱粒细胞中,α-胰蛋白酶占主导地位。这个基因与其他胰蛋白酶基因家族的成员不同,因为它具有C端疏水域,可以作为膜锚定。胰蛋白酶被认为是在哮喘和其他过敏和炎症性疾病的病理过程中作为介质的。[由RefSeq,2008年7月提供]
Related ID:
NCBI:25823
ENSEMBL:ENSG00000116176
HGNC:14134
UNIPROT:Q9NRR2
OMIM:609341
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
25823
1
6
3618 bp
33.82
35
--
3
4
TPSG1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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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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