Title : Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Pub. Date : 2017 Dec 15

PMID : 29040572






1 Functional Relationships(s)
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1 Here, we conducted whole-exome sequencing of patients with optic atrophy and other neurological signs of mitochondriopathy and identified 17 individuals from 13 unrelated families with recessive mutations in FDXR, encoding the mitochondrial membrane-associated flavoprotein ferrodoxin reductase required for electron transport from NADPH to cytochrome P450. NADP ferredoxin reductase Homo sapiens