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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
CHRNA2 - Cholinergic Receptor Nicotinic Alpha 2 Subunit
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
尼古丁乙酰胆碱受体(nAChRs)是由α和β亚基的五聚体排列形成的配体门控离子通道,形成独特的肌肉和神经受体。神经受体分布在周围和中枢神经系统中,参与快速突触传递。这个基因编码一个广泛表达在大脑中的α亚基。nAChR亚基的提议结构是一个保守的N-末端细胞外结构域,后面跟着三个保守的跨膜结构域,一个可变的胞质环,一个第四个保守的跨膜结构域,和一个短的C-末端细胞外区域。这个基因的突变导致常染色体显性夜间额叶癫痫4型。这个基因的单核苷酸多态性(SNPs)与尼古丁依赖有关。[RefSeq,2009年11月提供]
Related ID:
NCBI:1135
ENSEMBL:ENSG00000120903
HGNC:1956
UNIPROT:Q15822
OMIM:118502
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1135
9
7
19506 bp
59.77
657
2
5
7
CHRNA2 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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