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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
SPTBN4 - Spectrin Beta, Non-erythrocytic 4
Alias:
QV
CMND
SPNB4
NEDHND
SPTBN3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
谱蛋白是一种连接肌动蛋白的跨联和分子支架蛋白,将质膜连接到肌动蛋白细胞骨架上,并在细胞形状的确定、跨膜蛋白的排列和细胞器的组织中发挥作用。它由两个反平行的α-和β-亚基二聚体组成。这个基因是β-谱蛋白基因家族的一员。编码的蛋白质定位到核矩阵、PML核体和胞质囊泡。小鼠中一个高度相似的基因对于神经元极化区域中特定膜蛋白的定位是必需的。已经发现这个基因有多个编码不同异型的转录变异体。[RefSeq,2008年7月提供]
Related ID:
NCBI:57731
ENSEMBL:ENSG00000160460
HGNC:14896
UNIPROT:Q9H254
OMIM:606214
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57731
6
36
109464 bp
288.99
309
1
17
5
SPTBN4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Status
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References Literature
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