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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
DUSP6 - Dual Specificity Phosphatase 6
Alias:
HH19
MKP3
PYST1
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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双特异性蛋白磷酸酶亚家族的一员。这些磷酸酶通过去除磷酸丝氨酸/苏氨酸和磷酸酪氨酸残基来使它们的靶定激酶失活。它们负调控有丝分裂激活蛋白(MAP)激酶超家族(MAPK/ERK,SAPK/JNK,p38)的成员,这些成员与细胞增殖和分化有关。双特异性磷酸酶家族的不同成员显示出对各种MAP激酶的不同的底物特异性,不同的组织分布和亚细胞定位,以及它们表达的外部刺激诱导的不同模式。这个基因产物抑制ERK2,在各种组织中表达,心功能和胰腺中的水平最高,而且与这个家族的其他大多数成员不同,它位于细胞质中。这个基因的突变与先天性促性腺激素缺乏性腺功能减退症有关。已经发现了这个基因的可变剪接转录变异体。[由RefSeq,2014年1月提供]
Related ID:
NCBI:1848
ENSEMBL:ENSG00000139318
HGNC:3072
UNIPROT:Q16828
OMIM:602748
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1848
2
3
5267 bp
42.32
52
4
6
9
DUSP6 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
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References Literature
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