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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
PRSS8 - Serine Protease 8
Alias:
CAP1
PROSTASIN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码丝氨酸蛋白酶肽酶S1或胰凝乳蛋白酶家族的一员。编码的前原蛋白在蛋白水解过程中被处理,生成通过二硫键结合的重链和轻链,形成异源二聚酶。这种酶在前列腺上皮中高度表达,是精液中发现的几种蛋白水解酶之一。这种蛋白酶表现出类似胰蛋白酶的底物特异性,在赖氨酸或精氨酸残基的羧基端切割蛋白质底物。编码的蛋白酶部分介导上皮钠通道的蛋白水解激活,这是一种钠平衡的调节剂,也可能参与上皮屏障的形成。[RefSeq,2016年2月提供]
Related ID:
NCBI:5652
ENSEMBL:ENSG00000052344
HGNC:9491
UNIPROT:Q16651
OMIM:600823
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5652
1
6
4295 bp
36.43
7
--
15
8
PRSS8 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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References Literature
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