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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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MASP1 - MBL Associated Serine Protease 1
Alias:
3MC1
MAP1
MASP
RaRF
CRARF
MAP-1
MASP3
MAp44
PRSS5
CRARF1
MASP-3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个丝氨酸蛋白酶,作为补体激活的凝集素途径的组成部分。补体途径在天然和适应性免疫应答中起基本作用。编码的蛋白质作为酶原合成,并与凝集素途径的病原体识别分子甘露糖结合凝集素和纤维连蛋白复合物时激活。该蛋白质不直接参与补体激活,但可以通过切割补体C2或激活另一个补体丝氨酸蛋白酶MASP-2来作为补体激活的放大器。该编码的蛋白质还能切割纤维蛋白原和因子XIII,可能涉及凝血过程。这个基因的缺失丝氨酸蛋白酶结构域的剪接变体作为补体途径的抑制剂。交替剪接产生多个转录变异体。[RefSeq,2010年4月提供]
Related ID:
NCBI:5648
ENSEMBL:ENSG00000127241
HGNC:6901
UNIPROT:P48740
OMIM:600521
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5648
3
11
74456 bp
79.25
244
2
8
29
MASP1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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