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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
CTSS - Cathepsin S
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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preproprotein是溶酶体半胱氨酸蛋白酶,参与抗原性蛋白质降解为肽,以在MHC II类分子上呈现。成熟蛋白在胞内溶酶体腔中切割MHC II类分子的不变链,并使抗原-MHC II类复合物的形成和细胞外抗原肽被MHC-II的正常展示成为可能。成熟蛋白还在广泛的pH范围内作为弹性酶发挥作用。当从细胞分泌时,这个蛋白可以重塑细胞外基质的成分,如弹性蛋白、胶原和纤连蛋白。这个基因与许多炎性和自身免疫性疾病的病理有关,并且由于其弹性酶活性,在一些肺疾病中发挥着重要作用。已发现这个基因的不同剪接转录变异体编码不同的异构体。[RefSeq提供,2020年5月]
Related ID:
NCBI:1520
ENSEMBL:ENSG00000163131
HGNC:2545
UNIPROT:P25774
OMIM:116845
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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1520
2
8
35591 bp
37.50
8
--
12
14
CTSS Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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