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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
CST11 - Cystatin 11
Alias:
SC13
CST8L
CTES2
dJ322G13.6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个超家族包含含有多个类似cystatin序列的蛋白质。一些成员是活性半胱氨酸蛋白酶抑制剂,而其他成员已经失去或可能从未获得这种抑制活性。这个超家族中有三个抑制家族,包括1型胱氨酸蛋白酶抑制剂(stefins)、2型胱氨酸蛋白酶抑制剂和激肽原。2型胱氨酸蛋白酶抑制剂是一类在各种人类流质和分泌物中发现的半胱氨酸蛋白酶抑制剂。第20号染色体上的胱氨酸基因座含有大多数2型胱氨酸基因和假基因。这个基因位于胱氨酸基因座上,编码一个显示具有抗大肠杆菌抗菌活性的睾丸特异性的蛋白质。可变剪接产生两种编码不同异型体的变异体。[由RefSeq,2014年9月提供]
Related ID:
NCBI:140880
ENSEMBL:ENSG00000125831
HGNC:15959
UNIPROT:Q9H112
OMIM:609731
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
140880
2
3
2465 bp
16.51
8
--
2
4
CST11 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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Name
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References Literature
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