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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
HTRA1 - HtrA Serine Peptidase 1
Alias:
L56
HtrA
ARMD7
ORF480
PRSS11
CARASIL
CADASIL2
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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。这种蛋白质是一种分泌酶,通过切割IGF结合蛋白来调节胰岛素样生长因子(IGFs)的可用性。它也被认为是一种细胞生长调节剂。这个基因启动子区域的变异是导致易感年龄相关性黄斑变性7型的原因。[RefSeq,2008年7月提供]
Related ID:
NCBI:5654
ENSEMBL:ENSG00000166033
HGNC:9476
UNIPROT:Q92743
OMIM:602194
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5654
1
9
53355 bp
51.29
234
5
13
10
HTRA1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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