NDUFV3 Chromosome 21

NADH:ubiquinone oxidoreductase subunit V3
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase supernumerary subunits
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000160194
Associated Conditions (4)
NDUFV3-related disorder
Cervical cancer
Sarcoma
Familial cancer of breast
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS77606940 Health Risk Conflicting classifications of pathogenicity NDUFV3-related disorder, Cervical cancer, Sarcoma
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