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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
CTSH - Cathepsin H
Alias:
ACC4
ACC5
CPSB
ACC-4
ACC-5
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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,对溶酶体蛋白质的总体降解非常重要。它由重链和轻链的二聚体组成,这两个链都由一个单一的蛋白质前体产生。编码的蛋白质属于肽酶C1蛋白家族,可以既作为氨肽酶又作为内肽酶发挥作用。这个基因的过度表达与前列腺肿瘤的恶性进展有关。这个基因的可变剪接导致多个转录变异体,这些变异体编码不同的异构体。[由RefSeq,2016年1月提供]
Related ID:
NCBI:1512
ENSEMBL:ENSG00000103811
HGNC:2535
UNIPROT:P09668
OMIM:116820
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1512
4
12
23989 bp
37.39
21
1
6
12
CTSH Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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References Literature
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No Data Found!
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