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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
GZMH - Granzyme H
Alias:
CCP-X
CGL-2
CSP-C
CTLA1
CTSGL2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码丝氨酸蛋白酶肽酶S1家族的成员。可变剪接产生多种转录子变异体,其中至少一个编码前原蛋白,该前原蛋白在蛋白水解过程中被加工成天冬氨酸蛋白酶样蛋白酶。据报道,这种蛋白质在免疫系统的NK(自然杀手)细胞中组成性表达,并通过诱导目标细胞死亡和直接在病原体感染的细胞中切割底物,可能在先天免疫反应的细胞毒性臂中发挥作用。这个基因位于染色体14上的另一个颗粒酶亚家族成员的基因簇中。[RefSeq, Nov 2015提供]
Related ID:
NCBI:2999
ENSEMBL:ENSG00000100450
HGNC:4710
UNIPROT:P20718
OMIM:116831
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2999
3
5
3206 bp
27.32
10
--
6
7
GZMH Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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