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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
TH - Tyrosine Hydroxylase
Alias:
TYH
DYT14
DYT5b
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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参与酪氨酸向多巴胺的转化。它是儿茶酚胺合成的限速酶,因此在对肾上腺能神经元的生理学中扮演关键角色。这个基因的突变与常染色体隐性Segawa综合征有关。这个基因的不同剪接转录变异体已经注意到,它们编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7054
ENSEMBL:ENSG00000180176
HGNC:11782
UNIPROT:P07101
OMIM:191290
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7054
4
13
7887 bp
58.60
943
2
23
42
TH 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)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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