人 ACADM (NM_001286042) cDNA克隆

Accession: NM_001286042
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 4, mRNA.
种属: Human
CDS区长度: 1158 (查看编码区序列)
翻译后氨基酸长度: 385 (查看氨基酸序列)
Transcript Variant: This variant (4) differs in the 5' UTR and lacks an exon in the 5' coding region. These difference cause translation initiation at an alternate start codon compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus compared to isoform (a).
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G110890 人 ACADM (NM_001286042) 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]