CHRNB3 - cholinergic receptor nicotinic beta 3 subunit Gene

中文名称：胆碱能受体烟碱β3 亚单位

种属: Homo sapiens

关于 CHRNB3

功能概要

烟碱型乙酰胆碱受体 (nAChRs) 是配体门控离子通道超家族的成员，可介导突触处的快速信号传输。 nAChRs 是由同源亚基组成的 (杂) 五聚体。构成 nAChR 的肌肉和神经元形式的亚基由不同的基因编码，并具有不同的一级结构。有几种神经元 nAChR 亚型，它们根据中央通道周围排列的同源亚基而有所不同。如果像肌肉 alpha-1 (MIM 100690) 一样，它们有一对相邻的半胱氨酸作为假定的乙酰胆碱结合位点的一部分，则它们被归类为 alpha 亚基。缺少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]) 。埃利奥特等人。 (1996) [PubMed 8906617] 指出每个亚基的拟议结构是一个保守的 N 末端细胞外结构域，然后是 3 个保守的跨膜结构域、一个可变的细胞质环、第四个保守的跨膜结构域和一个短的 C 末端细胞外区域。[OMIM 提供，2010 年 4 月]

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]