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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
小鼠
Nefl - neurofilament, light polypeptide
Alias:
Nfl
NF-L
NF68
CMT2E
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
使蛋白质-大分子适配器活性正常。突触后中间丝细胞骨架的结构成分。参与中间丝束组装和突触成熟。在多个过程的上游或内部发挥作用,包括细胞骨架组织;神经元的产生;以及轴突直径的调节。位于几个细胞组件中,包括胆碱能突触;中间丝细胞骨架;和神经肌肉接头。在Schaffer collateral - CA1突触和突触后中间丝细胞骨架中活跃。在几个结构中表达,包括消化系统;中枢神经系统;眼睛;四肢;和周围神经系统神经节。用于研究Charcot-Marie-Tooth疾病2E。这种基因的人类同源物涉及Charcot-Marie-Tooth病(多种);肌萎缩侧索硬化;和侵入性导管癌。与人类NEFL(神经丝轻链)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:18039
ENSEMBL:ENSMUSG00000022055
UNIPROT:P08551
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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18039
1
4
5233 bp
61.51
6
14
Nefl Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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