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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
MAP3K7 - Mitogen-activated Protein Kinase Kinase Kinase 7
Alias:
CSCF
FMD2
TAK1
MEKK7
TGF1a
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是丝氨酸/苏氨酸蛋白激酶家族的成员。这个激酶调节TGF beta和形态发生蛋白(BMP)诱导的信号转导,并控制各种细胞功能,包括转录调控和凋亡。在响应IL-1的情况下,这个蛋白质形成一个包括TRAF6、MAP3K7P1/TAB1和MAP3K7P2/TAB2的激酶复合物;这个复合物是核因子kappa B激活所必需的。这个激酶还可以激活MAPK8/JNK、MAP2K4/MKK4,因此在细胞对环境应力的反应中发挥作用。已经报道了一种编码不同异质体的四种可变剪接转录本。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6885
ENSEMBL:ENSG00000135341
HGNC:6859
UNIPROT:O43318
OMIM:602614
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6885
5
17
73494 bp
67.20
208
3
16
56
MAP3K7 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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