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中文人类
NEFH - Neurofilament Heavy Chain
Alias:
NFH
CMT2CC
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神经丝是IV型中间丝异聚物，由轻链、中链和重链组成。神经丝组成轴骨架，在功能上维持神经元的直径。它们还可能参与轴突和树突的细胞内运输。这个基因编码重神经丝蛋白。这个蛋白通常被用作神经元损伤的生物标志物，并与这个基因中的突变相关，增加了患肌萎缩侧索硬化症（ALS）的风险。[RefSeq,2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NEFH Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* 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
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
