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Gene

NDUFB8

NADH:ubiquinone oxidoreductase subunit B8

Summary

Cytogenetic location
10q24.31
Coordinates
Chromosome 10: 100,523,740–100,529,871 (GRCh38)
Exons
5 exons across 6.1 kb
Protein
186 amino acids
Also known as
ASHI, CI-ASHI
MANE Select transcript
ENST00000299166.9NM_005004.4
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 reports relevant to this gene

    • Leigh Syndrome

      • One of 69 genes linked to it

        A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

        • ClinGen rates the link moderate

    • 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.

        • 2 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 NDUFB8 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 10, with a bracket where NDUFB8 sits. NDUFB8 and 18 genes near it on chromosome 10, from 100,026,806 to 101,026,805.Chromosome 1010q24.31p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.3100.2 Mb100.4 Mb100.6 Mb100.8 Mb101 MbCPN1: 100,041,105–100,081,907, reverse strandCPN1ERLIN1: 100,150,094–100,186,062, reverse strandERLIN1CHUK: 100,188,299–100,229,611, reverse strandCHUKCWF19L1: 100,230,024–100,267,685, reverse strandCWF19L1BLOC1S2: 100,272,797–100,286,708, reverse strandBLOC1S2PKD2L1: 100,288,149–100,330,264, reverse strandPKD2L1SCD: 100,346,508–100,364,837, forward strandSCDWNT8B: 100,463,009–100,483,744, forward strandWNT8BSEC31B: 100,484,998–100,519,892, reverse strandSEC31B: 100,505,628–100,529,881, reverse strandNDUFB8: 100,523,740–100,529,871, reverse strandNDUFB8HIF1AN: 100,529,072–100,681,896, forward strandHIF1ANPAX2: 100,735,380–100,829,944, forward strandPAX2SLF2: 100,912,963–100,965,134, forward strandSLF2MRPL43: 100,968,131–100,990,450, reverse strandMRPL43SEMA4G: 100,969,493–100,985,871, forward strandSEMA4GTWNK: 100,987,367–100,994,403, forward strandTWNKLZTS2: 100,996,539–101,007,852, forward strandLZTS2PDZD7: 101,007,679–101,032,295, reverse strandDiagram of NDUFB8: 5 exons on the reverse strand of chromosome 10Exon 4: 1 known disease-causing siteExon 5: 100,523,740–100,523,929, 190 basesExon 4: 100,526,399–100,526,554, 156 basesExon 3: 100,526,975–100,527,074, 100 basesExon 2: 100,529,380–100,529,506, 127 basesExon 1: 100,529,767–100,529,871, 105 bases543215′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 0.7 kb of the gene's 6.1 kb; 561 of those bases code for the protein.

    How a genome test reads NDUFB8

    1

    position in NDUFB8 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 6.1 kb of NDUFB8, introns included, not only the 0.7 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.). NDUFB8 gene: NADH:ubiquinone oxidoreductase subunit B8. Retrieved 17 October 2026, from https://dantelabs.com/genes/ndufb8

    Vancouver

    Dante Labs. NDUFB8 gene: NADH:ubiquinone oxidoreductase subunit B8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ndufb8

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