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Gene

NDUFA6

NADH:ubiquinone oxidoreductase subunit A6

Summary

Cytogenetic location
22q13.2
Coordinates
Chromosome 22: 42,085,526–42,090,772 (GRCh38)
Exons
3 exons across 5.2 kb
Protein
128 amino acids
Also known as
B14, LYRM6, CI-B14, NADHB14
MANE Select transcript
ENST00000498737.8NM_002490.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Primary Mitochondrial Disease

      • Mitochondrial Respiratory Chain Complex Deficiency

        One of 61 genes linked to it

        Isolated deficiencies of complex I, II, III, IV or V, caused by variants in nuclear or mitochondrial genes, which can affect the brain, muscles, heart, liver and other energy-demanding organs.

        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        Knowing can end a diagnostic search and guide surveillance of affected organs and avoidance of drugs toxic to mitochondria.

    How NDUFA6 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 22, with a bracket where NDUFA6 sits. NDUFA6 and 24 genes near it on chromosome 22, from 41,588,149 to 42,588,148.Chromosome 2222q13.2p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3341.6 Mb41.8 Mb42 Mb42.2 Mb42.4 MbPMM1: 41,576,886–41,595,275, reverse strandPMM1DESI1: 41,598,028–41,621,089, reverse strandDESI1XRCC6: 41,620,786–41,664,087, forward strandXRCC6SNU13: 41,666,627–41,690,504, reverse strandSNU13MEI1: 41,699,494–41,799,456, forward strandMEI1CCDC134: 41,800,321–41,832,178, forward strandCCDC134SREBF2: 41,833,029–41,907,308, forward strandSREBF2SHISA8: 41,906,316–41,915,129, reverse strandSHISA8TNFRSF13C: 41,922,032–41,926,806, reverse strandTNFRSF13CCENPM: 41,927,514–41,947,183, reverse strandCENPMSMIM45: 41,947,178–41,958,942, forward strandSMIM45SEPTIN3: 41,969,443–41,998,221, forward strandSEPTIN3WBP2NL: 41,998,725–42,058,456, forward strandNAGA: 42,032,595–42,071,198, reverse strandNAGAPHETA2: 42,073,789–42,079,439, forward strandPHETA2SMDT1: 42,079,564–42,090,033, forward strandSMDT1NDUFA6: 42,085,526–42,090,772, reverse strandNDUFA6CYP2D6: 42,120,962–42,131,727, reverse strandCYP2D6CYP2D7: 42,140,203–42,149,500, reverse strandCYP2D7TCF20: 42,160,013–42,343,616, reverse strandTCF20NFAM1: 42,380,407–42,432,425, reverse strandNFAM1RRP7A: 42,507,982–42,519,853, reverse strandRRP7ASERHL2: 42,553,617–42,574,387, forward strandSERHL2POLDIP3: 42,582,750–42,614,962, reverse strandPOLDIP3: 42,583,836–42,627,688, reverse strandDiagram of NDUFA6: 3 exons on the reverse strand of chromosome 22Exon 3: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 3: 42,085,526–42,086,314, 789 basesExon 2: 42,087,060–42,087,175, 116 basesExon 1: 42,090,606–42,090,772, 167 bases3215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 1.1 kb of the gene's 5.2 kb; 387 of those bases code for the protein.

    How a genome test reads NDUFA6

    2

    positions in NDUFA6 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 5.2 kb of NDUFA6, introns included, not only the 1.1 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). NDUFA6 gene: NADH:ubiquinone oxidoreductase subunit A6. Retrieved 17 October 2026, from https://dantelabs.com/genes/ndufa6

    Vancouver

    Dante Labs. NDUFA6 gene: NADH:ubiquinone oxidoreductase subunit A6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ndufa6

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