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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
PRSS12 - Serine Protease 12
Alias:
MRT1
BSSP3
BSSP-3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码胰蛋白酶家族丝氨酸蛋白酶成员,并包含一个信号肽,一个富含脯氨酸的区域,一个Kringle结构域,四个清道夫受体半胱氨酸丰富结构域,和一个胰蛋白酶样丝氨酸蛋白酶结构域。这种蛋白质,有时被称为神经胰蛋白酶或motopsin,从神经细胞分泌并定位到突触间隙。研究表明,这种蛋白质切割一种名为agrin的蛋白质,该蛋白质对于兴奋性突触的形成和维护至关重要。这个基因的缺陷导致了一种常染色体隐性认知障碍(MRT1)。[RefSeq,2017年7月提供]
Related ID:
NCBI:8492
ENSEMBL:ENSG00000164099
HGNC:9477
UNIPROT:P56730
OMIM:606709
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8492
3
13
72966 bp
97.07
200
2
7
5
PRSS12 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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