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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
TMPRSS3 - Transmembrane Serine Protease 3
Alias:
DFNB8
DFNB10
ECHOS1
TADG12
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于丝氨酸蛋白酶家族的蛋白质。编码的蛋白质包含一个丝氨酸蛋白酶结构域,一个跨膜结构域,一个低密度脂蛋白受体样结构域,和一个清道夫受体半胱氨酸丰富结构域。丝氨酸蛋白酶已知参与多种生物过程,其功能失常通常导致人类疾病和障碍。这个基因因其与先天性和儿童发病常染色体隐性耳聋的关联而被鉴定出来。这个基因在胎儿耳蜗和许多其他组织中表达,被认为参与内耳或外淋巴和内淋巴的内容物的发育和维持。这个基因还被鉴定为一个在卵巢肿瘤中过表达的肿瘤相关基因。已经描述了替代剪接的转录变异体。[由RefSeq,2012年1月提供]
Related ID:
NCBI:64699
ENSEMBL:ENSG00000160183
HGNC:11877
UNIPROT:P57727
OMIM:605511
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
64699
4
13
24163 bp
49.41
340
5
5
12
TMPRSS3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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Status
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References Literature
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