MDH2基因突變與藥物因子介紹
蘋果酸脫氫酶在檸檬酸循環(huán)中利用NAD/NADH輔因子體系催化蘋果酸對草酰乙酸的可逆氧化。由該基因編碼的蛋白質定位于線粒體，可能在蘋果酸-天冬氨酸穿梭中發(fā)揮關鍵作用，在細胞溶膠和線粒體之間的代謝協(xié)調中起作用已經(jīng)發(fā)現(xiàn)了一些編碼不同亞型的轉錄變體。[由RefSeq提供，2013年9月]
Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
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