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NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa

Also known as: B12; CI-B12

Summary

This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]

Associated conditions

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DescriptionTests
Mitochondrial complex I deficiency
MedGen: C1838979OMIM: 252010GeneReviews: Not available
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Genomic context

Location:
2q31.3
Sequence:
Chromosome: 2; NC_000002.12 (201071739..201085750)
Total number of exons:
4

Links

  • BioSystems
    BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView
  • SNP: VarView
    Related Clinical SNP

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