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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
MNX1 - Motor Neuron And Pancreas Homeobox 1
Alias:
HB9
HLXB9
SCRA1
HOXHB9
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有homeobox结构域的核蛋白,是一种转录因子。这个基因的突变导致Currarino综合症,这是一种常染色体显性遗传的先天性畸形。已经发现这个基因有不同的剪接转录变异体,编码不同的异构体。[由RefSeq,2009年9月提供]
Related ID:
NCBI:3110
ENSEMBL:ENSG00000130675
HGNC:4979
UNIPROT:P50219
OMIM:142994
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3110
2
3
5810 bp
40.57
237
1
8
10
MNX1 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
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Acting
Regulation
Detail
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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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