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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
CTSV - Cathepsin V
Alias:
CTSU
CATL2
CTSL2
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是溶酶体半胱氨酸蛋白酶,可能在角膜生理学中扮演重要角色。这个基因在结直肠癌和乳腺癌中表达,但在正常结肠、乳腺或肿瘤周围组织中不表达,提示这个基因可能在肿瘤过程中发挥作用。已经识别出可替代剪接的变异体,编码相同的蛋白质。[RefSeq,2011年1月提供]
Related ID:
NCBI:1515
ENSEMBL:ENSG00000136943
HGNC:2538
UNIPROT:O60911
OMIM:603308
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1515
2
8
9967 bp
37.33
13
--
14
11
CTSV 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
Detail
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Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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