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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
CMA1 - Chymase 1
Alias:
CYH
MCT1
chymase
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种属于肽酶家族S1的胆碱溶蛋白酶。它在肥大细胞中表达,被认为在细胞外基质的降解、黏膜下腺分泌的调节和血管活性肽的生成中发挥作用。在心脏和血管中,这种蛋白质,而不是血管紧张素转换酶,在将血管紧张素I转化为血管活性肽血管紧张素II中起主要作用。可变剪接导致多个变异体。[RefSeq,2015年4月提供]
Related ID:
NCBI:1215
ENSEMBL:ENSG00000092009
HGNC:2097
UNIPROT:P23946
OMIM:118938
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1215
2
5
2913 bp
27.32
13
--
5
13
CMA1 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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