NADH-Ubiquinone Oxidoreductase Flavoprotein 3

Alternative Names

  • NDUFV3
  • Complex I, Mitochondrial Respiratory Chain, 10-KD Subunit
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OMIM Number

602184

NCBI Gene ID

4731

Uniprot ID

P56181

Length

33,661 bases

No. of Exons

5

No. of isoforms

2

Protein Name

NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial

Molecular Mass

11941 Da

Amino Acid Count

108

Genomic Location

chr21:42,879,644-42,913,304

Gene Map Locus
21q22.3

Description

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. [From OMIM]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021075.4:c.552dupUnited Arab EmiratesNC_000021.9:g.42903564dupBenignNG_042281.1:g.15297dup; NM_021075.4:c.552dup; NP_066553.3:p.Leu185AlafsTer11756066564
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