FTH1

This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

本基因编码铁蛋白的重链亚基，铁蛋白是原核生物和真核生物细胞内主要的铁储存蛋白。铁蛋白由24个重链和轻链亚基组成。铁蛋白亚基组成的变异可能影响不同组织中铁的吸收和释放速率。铁蛋白的主要功能是储存铁于可溶性且无毒的状态。铁蛋白蛋白的缺陷与多种神经退行性疾病相关。本基因存在多个假基因。已观察到多个选择性剪接的转录本变体，但其生物学有效性尚未确定。[由RefSeq提供，2008年7月]