rs946253889
This variant is located in the NDUFAF2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout NDUFAF2
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
View all NDUFAF2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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