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FDXR

Gene product:  Ferredoxin Reductase.

Protein function: It is a mitochondrial flavoprotein that receives electrons from NADPH and initiates electron transport for cytochromes P450 [1].

Phenotype: Auditory neuropathy and optic atrophy (also called optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, clinical manifestations consisted of microcephaly, optic atrophy, seizures, global development delay, hypotonia, spasticity, and ataxia) (AR) [2-3].

Mutation database: ClinVar.

Clinical research: PubMed (PMID: 28965846 (Am J Hum Genet. 2017)；33742450 (Int J Dev Neurosci. 2021))

 

References:

  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.