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Gene

NDUFAF4

NADH:ubiquinone oxidoreductase complex assembly factor 4

Summary

Cytogenetic location
6q16.1
Coordinates
Chromosome 6: 96,889,315–96,897,891 (GRCh38)
Exons
3 exons across 8.6 kb
Protein
175 amino acids
Also known as
HSPC125, bA22L21.1, My013, HRPAP20
Previous symbols
C6orf66
MANE Select transcript
ENST00000316149.8NM_014165.4
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 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.

        • 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 NDUFAF4 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 6, with a bracket where NDUFAF4 sits. NDUFAF4 and 5 genes near it on chromosome 6, from 96,393,603 to 97,393,602.Chromosome 66q16.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2796.4 Mb96.6 Mb96.8 Mb97 Mb97.2 MbUFL1: 96,521,595–96,555,943, forward strandUFL1FHL5: 96,562,548–96,621,381, forward strandFHL5GPR63: 96,794,125–96,838,150, reverse strandGPR63NDUFAF4: 96,889,315–96,897,891, reverse strandNDUFAF4KLHL32: 96,924,615–97,140,756, forward strandKLHL32MMS22L: 97,141,741–97,283,241, reverse strandMMS22LDiagram of NDUFAF4: 3 exons on the reverse strand of chromosome 6Exon 1: 1 known disease-causing siteExon 3: 96,889,315–96,891,391, 2,077 basesExon 2: 96,896,744–96,896,847, 104 basesExon 1: 96,897,666–96,897,891, 226 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 2.4 kb of the gene's 8.6 kb; 528 of those bases code for the protein.

    How a genome test reads NDUFAF4

    1

    position in NDUFAF4 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 8.6 kb of NDUFAF4, introns included, not only the 2.4 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.). NDUFAF4 gene: NADH:ubiquinone oxidoreductase complex assembly factor 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/ndufaf4

    Vancouver

    Dante Labs. NDUFAF4 gene: NADH:ubiquinone oxidoreductase complex assembly factor 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ndufaf4

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