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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
YWHAE - Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase Activation Protein Epsilon
Alias:
MDS
HEL2
MDCR
KCIP-1
14-3-3E
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因产物属于14-3-3家族蛋白质,通过结合含磷酸丝氨酸的蛋白质来调节信号传导。这个高度保守的蛋白质家族在植物和哺乳动物中都有发现,这个蛋白质与小鼠的直向同源蛋白质有100%的相同性。它与CDC25磷酸酶、RAF1和IRS1蛋白质相互作用,提示它在与信号传导相关的多种生物化学活动中发挥作用,如细胞分裂和胰岛素敏感性的调节。它还被认为与小细胞肺癌的病理发生有关。已发现这个基因有两个转录变异体,一个是蛋白质编码变异体,另一个是非蛋白质编码变异体。[由RefSeq,2008年8月提供]
Related ID:
NCBI:7531
ENSEMBL:ENSG00000108953
HGNC:12851
UNIPROT:P62258
OMIM:605066
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7531
1
6
55948 bp
29.17
45
5
7
43
YWHAE 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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