人 ACADM (NM_000016) cDNA克隆

Accession: NM_000016
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 1, mRNA.
种属: Human
CDS区长度: 1266 (查看编码区序列)
翻译后氨基酸长度: 421 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes isoform a.
产品编号 产品名称 载体 规格 价格
G110888 人 ACADM (NM_000016) cDNA克隆 pDONR223 2ug质粒 点击询价

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]