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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
CST5 - Cystatin D
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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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,编码一种在唾液和泪水中发现的蛋白质。编码的蛋白质可能对口腔中存在的蛋白酶起到保护作用。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1473
ENSEMBL:ENSG00000170367
HGNC:2477
UNIPROT:P28325
OMIM:123858
Basic Information
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1473
1
3
3815 bp
16.08
17
--
2
8
CST5 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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