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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
DCX - Doublecortin
Alias:
DC
DBCN
LISX
SCLH
XLIS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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这个基因编码一个双皮质蛋白家族成员。这个基因编码的蛋白质是一种胞质蛋白质,包含两个双皮质结构域,可以结合微管。在发育中的皮质中,皮质神经元必须经过长距离迁移才能达到它们最终的分化部位。编码的蛋白质似乎通过调节微管的组织稳定来指导神经元迁移。此外,该编码蛋白质与LIS1相互作用,LIS1是血小板活化因子乙酰水解酶的调节γ亚单位,这种相互作用对发育中的皮质中微管的正常功能至关重要。这个基因的突变导致发育过程中神经元的迁移异常,破坏皮层的分层,导致女性癫痫、认知障碍、皮质下带异位(“双皮质”综合征)和男性无脑回症(“光滑大脑”综合征)。已发现这个基因有不同的转录变异体,编码不同的异构体。[RefSeq, 2010年9月提供]
Related ID:
NCBI:1641
ENSEMBL:ENSG00000077279
HGNC:2714
UNIPROT:O43602
OMIM:300121
Basic Information
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1641
11
7
118414 bp
40.57
250
5
10
22
DCX Genetics information (-)
GRCh38
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* This data comes from NCBI.
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