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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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人类
YWHAB - Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase Activation Protein Beta
Alias:
HS1
GW128
YWHAA
KCIP-1
HEL-S-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于14-3-3家族的蛋白质,这个家族的成员通过结合含有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分布。已发现的这个基因编码的蛋白质可以与RAF1和CDC25磷酸酶相互作用,暗示它可能在连接有丝分裂信号和细胞周期机制中发挥作用。已经发现了两种转录变异体,它们编码相同的蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7529
ENSEMBL:ENSG00000166913
HGNC:12849
UNIPROT:P31946
OMIM:601289
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
7529
3
6
22828 bp
28.08
1
--
4
41
YWHAB Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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