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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
LGMN - Legumain
Alias:
AEP
LGMN1
PRSC1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个严格的特异性针对天冬酰胺键的水解的半胱氨酸蛋白酶。这个酶可能参与处理细菌肽和内源蛋白质,用于MHC II类在溶酶体/内质网系统中的呈现。酶的激活由酸性pH触发,并表现为自催化。蛋白质表达在单核细胞分化为树突状细胞后进行。在成熟的树突状细胞中脂多糖表达后产生完全成熟的活性酶。这个基因的过表达可能与大多数实体瘤类型有关。这个基因在染色体13上有一个假基因。已经描述了几个可变剪接转录变异体,但只有两个的生物有效性已经确定。这两个变异体编码相同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5641
ENSEMBL:ENSG00000100600
HGNC:9472
UNIPROT:Q99538
OMIM:602620
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5641
11
14
44819 bp
49.41
25
--
9
13
LGMN 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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