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Gene

NDUFA8

NADH:ubiquinone oxidoreductase subunit A8

Summary

Cytogenetic location
9q33.2
Coordinates
Chromosome 9: 122,144,058–122,159,779 (GRCh38)
Exons
4 exons across 15.7 kb
Protein
172 amino acids
Also known as
PGIV, MGC793
MANE Select transcript
ENST00000373768.4NM_014222.3
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.

        • 1 GenCC submitter rates 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 NDUFA8 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 9, with a bracket where NDUFA8 sits. NDUFA8 and 15 genes near it on chromosome 9, from 121,651,919 to 122,651,918.Chromosome 99q33.2p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3121.8 Mb122 Mb122.2 Mb122.4 Mb122.6 MbDAB2IP: 121,567,057–121,785,530, forward strandDAB2IPTTLL11: 121,815,674–122,093,606, reverse strandTTLL11NDUFA8: 122,144,058–122,159,779, reverse strandNDUFA8MORN5: 122,159,903–122,200,088, forward strandMORN5LHX6: 122,202,577–122,229,626, reverse strandLHX6RBM18: 122,237,622–122,264,855, reverse strandRBM18MRRF: 122,264,141–122,331,337, forward strandMRRFPTGS1: 122,370,530–122,395,877, forward strandPTGS1OR1J1: 122,476,958–122,477,926, reverse strandOR1J1OR1J2: 122,510,802–122,511,743, forward strandOR1J2OR1J4: 122,519,141–122,520,082, forward strandOR1J4OR1N1: 122,526,358–122,527,293, reverse strandOR1N1OR1N2: 122,553,112–122,554,214, forward strandOR1N2OR1L8: 122,566,267–122,583,384, reverse strandOR1L8OR1Q1: 122,614,738–122,615,682, forward strandOR1Q1OR1B1: 122,628,125–122,657,627, reverse strandOR1B1Diagram of NDUFA8: 4 exons on the reverse strand of chromosome 9Exon 4: 1 known disease-causing siteExon 4: 122,144,058–122,144,378, 321 basesExon 3: 122,148,112–122,148,277, 166 basesExon 2: 122,152,245–122,152,408, 164 basesExon 1: 122,159,627–122,159,779, 153 bases43215′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 0.8 kb of the gene's 15.7 kb; 519 of those bases code for the protein.

    How a genome test reads NDUFA8

    1

    position in NDUFA8 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 15.7 kb of NDUFA8, introns included, not only the 0.8 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.). NDUFA8 gene: NADH:ubiquinone oxidoreductase subunit A8. Retrieved 16 October 2026, from https://dantelabs.com/genes/ndufa8

    Vancouver

    Dante Labs. NDUFA8 gene: NADH:ubiquinone oxidoreductase subunit A8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ndufa8

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