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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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YWHAQ - Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase Activation Protein Theta
Alias:
1C5
HS1
14-3-3
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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,这个蛋白质与小鼠和大鼠的直向同源物有99%的相似性。这个基因在肌萎缩侧索硬化症患者中上调。它的5'UTR含有一个6bp的重复序列,这个序列是多态性的,但是重复数量与疾病之间没有相关性。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10971
ENSEMBL:ENSG00000134308
HGNC:12854
UNIPROT:P27348
OMIM:609009
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10971
1
6
47031 bp
27.76
4
--
3
32
YWHAQ 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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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Type
Name
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Status
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Link
No data available
References Literature
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