FH

The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]

该基因编码的蛋白质为三羧酸循环（或称克雷布斯循环）的酶促组分，催化富马酸转化为L-苹果酸。该蛋白质存在于细胞质形式和N端延长形式，两者仅在翻译起始位点上有所不同。N端延长形式靶向线粒体，延长部分的去除将生成与细胞质中相同的形式。它类似于某些耐热性II类富马酸酶，并以同四聚体的形式发挥作用。该基因的突变可导致富马酸酶缺乏症，进而引发进行性脑病。[提供者：RefSeq，2008年7月]

搜集汇总

背景与挑战

背景概述

FH基因编码的蛋白质是三羧酸循环中的关键酶，催化富马酸向L-苹果酸的转化，存在胞质和线粒体靶向两种形式。该蛋白质以同源四聚体形式发挥作用，其突变与富马酸酶缺乏症及进行性脑病相关。