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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
CHRNB3 - Cholinergic Receptor Nicotinic Beta 3 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)是介导突触处快速信号传递的配体门控离子通道超家族的成员。nAChRs是由同原亚基组成的(异源)五聚体。组成肌肉和神经元形式的nAChRs的亚基由不同的基因编码,具有不同的主要结构。有几种神经元nAChRs亚型,其差异取决于围绕中央通道排列的同源亚基。如果它们像肌肉α-1(MIM 100690)一样具有作为推测的乙酰胆碱结合部位的一部分的一对相邻半胱氨酸,则将其归类为α亚基。缺乏这些半胱氨酸残基的亚基被归类为β亚基(Groot Kormelink和Luyten,1997[PubMed 9009220])。Elliott等(1996)[PubMed 8906617]指出,每个亚基的提议结构是一个保守的N-末端细胞外结构域,后面是3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。[由OMIM于2010年4月提供]
Related ID:
NCBI:1142
ENSEMBL:ENSG00000147432
HGNC:1963
UNIPROT:Q05901
OMIM:118508
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
1142
3
6
40042 bp
52.73
18
--
4
4
CHRNB3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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