基因产物：铁氧还蛋白还原酶（Ferredoxin Reductase）。

蛋白功能：是一种线粒体黄素蛋白，它从 NADPH 接收电子，启动细胞色素P450酶系统的电子传递[1]。

相关疾病：听觉神经病变和视神经萎缩（也叫做视神经萎缩-共济失调-周围神经病-全面脑发育迟缓综合征，临床可表现为小头畸形、视神经萎缩、癫痫发作、全面发育迟缓、肌张力减退、痉挛状态和共济失调等（部分可只表现为其中的几项））（AR）[2-3]。


参考文献

1. Shi, Y., et al., Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis. Biochim Biophys Acta, 2012. 1823(2): p. 484-92.
2. Paul, A., et al., FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. Am J Hum Genet, 2017. 101(4): p. 630-637.
3. Yang, C., et al., Report of a case with ferredoxin reductase (FDXR) gene variants in a Chinese boy exhibiting hearing loss, visual impairment, and motor retardation. Int J Dev Neurosci, 2021. 81(4): p. 364-369.