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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
CTSC - Cathepsin C
Alias:
JP
HMS
JPD
PLS
CPPI
DPP1
DPPI
PALS
DPP-I
PDON1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肽酶C1家族成员和溶酶体半胱氨酸蛋白酶,似乎在免疫系统细胞中激活许多丝氨酸蛋白酶方面起着中心协调作用。可变剪接产生多个转录子变异体,至少其中一个编码前原蛋白,该前原蛋白在蛋白水解过程中被加工成形成形成二硫键连接的二聚体的重链和轻链。部分前肽作为成熟酶折叠和稳定的分子内伴侣。此酶需要氯离子具有活性,并能降解胰高血糖素。已证明编码蛋白的缺陷是Palisson-Lefevre综合征的原因,这是一种特征为手掌和脚底角化病和牙周炎的常染色体隐性障碍。[RefSeq,2015年11月提供]
Related ID:
NCBI:1075
ENSEMBL:ENSG00000109861
HGNC:2528
UNIPROT:P53634
OMIM:602365
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1075
3
7
44145 bp
51.85
330
4
6
31
CTSC Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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