人 ALDH6A1 (NM_001278594) cDNA克隆

基本信息

Accession: NM_001278594
基因名称: ALDH6A1
基因别名: MMSDH; MMSADHA
基因描述: Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1146 (查看编码区序列)
翻译后氨基酸长度: 381 (查看氨基酸序列)
Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region and uses a downstream start codon compared to variant 1, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus, compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G113382 人 ALDH6A1 (NM_001278594) 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 ALDH6A1 (NM_005589) cDNA克隆 transcript variant 1
人 ALDH6A1 (NM_001278593) cDNA克隆 transcript variant 2
人 ALDH6A1 (NM_001278594) cDNA克隆 transcript variant 3

基因简介

This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

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