人 CHAT (NM_020985) cDNA克隆

基本信息

Accession: NM_020985
基因名称: CHAT
基因别名: CMS1A; CMS1A2; CHOACTASE
基因描述: Homo sapiens choline O-acetyltransferase (CHAT), transcript variant N1, mRNA.
种属: Human
CDS区长度: 1893 (查看编码区序列)
翻译后氨基酸长度: 630 (查看氨基酸序列)
Transcript Variant: This variant (N1) contains alternate 5' exon N and uses an alternate splice site within alternate exon M, and encodes isoform 1. Transcript variants R, N1, N2, M and S encode isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G122956 人 CHAT (NM_020985) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 CHAT (NM_001142929) cDNA克隆 transcript variant M
人 CHAT (NM_020549) cDNA克隆 transcript variant M
人 CHAT (NM_020985) cDNA克隆 transcript variant N1
人 CHAT (NM_020986) cDNA克隆 transcript variant N2
人 CHAT (NM_020984) cDNA克隆 transcript variant R
人 CHAT (NM_001142933) cDNA克隆 transcript variant S
人 CHAT (NM_001142934) cDNA克隆 transcript variant S

基因简介

This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]

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