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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
CTSK - Cathepsin K
Alias:
CTSO
PKND
PYCD
CTS02
CTSO1
CTSO2
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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一种溶酶体半胱氨酸蛋白酶,参与骨重塑和吸收。这种蛋白质是肽酶C1蛋白家族的一员,主要在破骨细胞中表达。然而,编码的蛋白质也在大部分人类乳腺癌中表达,可能有助于肿瘤侵袭性。这个基因的突变是导致骨疏松短小的遗传性疾病——毛细胞异常的原因。[RefSeq,2013年4月提供]
Related ID:
NCBI:1513
ENSEMBL:ENSG00000143387
HGNC:2536
UNIPROT:P43235
OMIM:601105
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1513
1
8
12053 bp
36.97
296
5
15
17
CTSK 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
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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
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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