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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
CSTA - Cystatin A
Alias:
AREI
PSS4
STF1
STFA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
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。该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。这个基因编码一个作为半胱氨酸蛋白酶抑制剂的stefin,与木瓜蛋白酶和胱天蛋白酶B、H和L形成紧密复合物。该蛋白质是角质细胞中角化细胞包膜的前体蛋白质之一,并在表皮发育和维护中发挥作用。已经提出将stefins作为癌症的预后和诊断工具。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1475
ENSEMBL:ENSG00000121552
HGNC:2481
UNIPROT:P01040
OMIM:184600
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1475
1
3
16722 bp
11.01
16
3
14
14
CSTA 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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