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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
NRXN1 - Neurexin 1
Alias:
PTHSL2
SCZD17
Hs.22998
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于神经素家族的单一通过型I膜蛋白。神经素是结合神经素的细胞表面受体,在中枢神经系统的突触处形成Ca(2+)依赖的神经素/神经素复合物。这个复合物对高效的神经传递是必需的,并参与突触接触的形成。这个基因家族的3个成员已经进行了详细的研究,通过使用两个可选的启动子(α和β)和每个成员中的大量可选剪接,估计产生了超过3,000种变异。最近,在这个基因的3'区域中发现了第三个启动子(γ)。这个基因的突变与Pitt-Hopkins-like综合征-2有关,可能增加精神分裂症的易感性。[RefSeq,2016年8月提供]
Related ID:
NCBI:9378
ENSEMBL:ENSG00000179915
HGNC:8008
UNIPROT:P58400
OMIM:600565
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
9378
25
23
1113630 bp
50.42
1781
5
14
15
NRXN1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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