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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
CST4 - Cystatin S
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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References Literature
囊素超家族包括含有多个囊素样序列的蛋白质。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。超家族中有三个抑制家族,包括1型囊素(stefins)、2型囊素和激肽原。2型囊素蛋白是一类在各种人类液体和分泌物中发现的半胱氨酸蛋白酶抑制剂。第20号染色体上的囊素基因座含有大多数2型囊素基因和假基因。这个基因位于囊素基因座上,编码一种2型唾液半胱氨酸肽酶抑制剂。该蛋白质是一种基于其在唾液、泪液和精浆中的高表达的S型囊素。在这些液体中的具体作用尚不清楚,但存在抗菌和抗病毒活性,这与保护功能一致。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1472
ENSEMBL:ENSG00000101441
HGNC:2476
UNIPROT:P01036
OMIM:123857
Basic Information
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1472
1
3
3399 bp
16.21
18
--
--
14
CST4 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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