人 ACADM (NM_001127328) cDNA克隆

基本信息

Accession: NM_001127328
基因名称: ACADM
基因别名: MCAD; ACAD1; MCADH
基因描述: Homo sapiens acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1278 (查看编码区序列)
翻译后氨基酸长度: 425 (查看氨基酸序列)
Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is longer than isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G110889 人 ACADM (NM_001127328) 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 ACADM (NM_000016) cDNA克隆 transcript variant 1
人 ACADM (NM_001127328) cDNA克隆 transcript variant 3
人 ACADM (NM_001286042) cDNA克隆 transcript variant 4
人 ACADM (NM_001286043) cDNA克隆 transcript variant 5
人 ACADM (NM_001286044) cDNA克隆 transcript variant 6

基因简介

This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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