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ACADVL
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ACADVL : ウィキペディア英語版
ACADVL

ACADVL is a gene associated with very long-chain acyl-coenzyme A dehydrogenase deficiency.The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms.
==Structure==

The ACADVL gene contains 20 exons,〔 〕 and is about 5.4 kb long. 〔 〕 VLCAD has interesting gene structure in humans, in that is located in a head-to-head structure with the DLG4 gene on Chromosome 17, and that the transcribed regions of these genes overlap. It has been shown that treatment with DEHP results in upregulation by the minimal promoter.〔 〕 While DLG4 and VLCAD share common regulatory elements, they each have separate and distinct tissue-specific elements that confer their function. In mice, these two genes are in a head-to-head orientation, but they do not overlap. 〔 〕

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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