功能概要
该基因编码线粒体 NAD 依赖性苹果酸酶，一种同源四聚体蛋白，可催化苹果酸氧化脱羧为丙酮酸。它以前与一种称为 Friedreich 共济失调的综合症有微弱的联系，此后被证明是完全不同的基因突变的结果。该基因的某些单核苷酸多态性单倍型已被证明会增加特发性全身性癫痫的风险。为该基因发现的编码不同亚型的选择性剪接转录变体。[RefSeq 提供，2009 年 12 月]
This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]