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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
Nfasc - neurofascin
Alias:
NF
mKIAA0756
D430023G06Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
这个基因编码一个L1家族免疫球蛋白细胞粘附分子,具有多个IGcam和纤连蛋白结构域。该蛋白在早期发育过程中在轴突初始段(AIS)和朗维埃节点的轴突中参与神经突生长、神经突聚集和组织化。AIS和朗维埃节点含有高浓度的电压门控Na+(Nav)通道,这些通道通过与细胞骨架和支架蛋白(包括该蛋白、神经介素、ankyrin 3(ankyrin-G)和betaIV spectrin)相互作用而聚集。该蛋白将AIS细胞外基质与细胞内的细胞骨架连接起来。这个基因经历广泛的替代剪接,一些变异体的完整长度尚未确定。[RefSeq提供,2009年5月]
Related ID:
NCBI:269116
ENSEMBL:ENSMUSG00000026442
UNIPROT:Q810U3
Basic Information
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Length
MW (kDa)
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269116
42
30
177140 bp
137.97
8
5
Nfasc Genetics information (-)
GRCm39
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* This data comes from NCBI.
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