人类

NF1 - Neurofibromin 1

Alias:
WSS
NFNS
VRNF
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因产物似乎作为ras信号转导途径的负调控子发挥作用。这个基因的突变与神经纤维瘤病1型、幼年粒单核细胞白血病和Watson综合症有关。这个基因的mRNA受到RNA编辑的影响(CGA>UGA->Arg1306Term),导致翻译提前终止。这个基因还有其他的剪接转录变体,编码不同的异构体。[由RefSeq,2008年7月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3
58
282751 bp
319.37
12093
24
21
78

NF1 Genetics information (+)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
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
Alphabetical

Interactions

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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