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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
CTSB - Cathepsin B
Alias:
KWE
APPS
CPSB
RECEUP
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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C1家族肽酶成员。这个基因的可变剪接导致多个转录变异体。这些变异体中的至少一个编码前原蛋白,该前原蛋白在蛋白水解过程中被加工成多个蛋白质产物。这些产物包括组织蛋白酶B轻链和重链,它们可以二聚形成酶的双链形式。这种酶是一种具有内肽酶和外肽酶活性的溶酶体半胱氨酸蛋白酶,可能参与蛋白质的周转。它也被称为淀粉样前体蛋白分泌酶,并涉及淀粉样前体蛋白(APP)的蛋白水解加工。APP的不完全蛋白水解加工已被认为是在阿尔茨海默病中起因果作用的最常见原因,阿尔茨海默病是最常见的痴呆原因。编码的蛋白质的过度表达与食管腺癌和其他肿瘤有关。组织蛋白酶B和组织蛋白酶L都涉及严重急性呼吸系统综合症冠状病毒2(SARS-CoV-2)进入人类宿主细胞后,其刺突蛋白的切割。已经发现了这个基因的多个假基因。[RefSeq,2020年9月提供]
Related ID:
NCBI:1508
ENSEMBL:ENSG00000164733
HGNC:2527
UNIPROT:P07858
OMIM:116810
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1508
13
10
25564 bp
37.82
120
1
5
20
CTSB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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Link
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References Literature
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