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Gene

CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10

Summary

Cytogenetic location
22q11.23
Coordinates
Chromosome 22: 23,765,834–23,767,972 (GRCh38)
Exons
4 exons across 2.1 kb
Protein
142 amino acids
Inheritance
Autosomal dominant
Also known as
N27C7-4, MIX17A
Previous symbols
C22orf16
MANE Select transcript
ENST00000484558.3NM_213720.3
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 reports relevant to this gene

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

  • Frontotemporal Dementia

    • Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisAutosomal dominant

      Umbrella term for the genetic frontotemporal dementia and ALS spectrum, including forms caused by C9orf72, TBK1, VCP, SQSTM1 and other genes.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong

  • Spinal Muscular Atrophy

    • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

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

      Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CHCHD10 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 22, with a bracket where CHCHD10 sits. CHCHD10 and 21 genes near it on chromosome 22, from 23,266,903 to 24,266,902.Chromosome 2222q11.23p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3323.4 Mb23.6 Mb23.8 Mb24 Mb24.2 MbBCR: 23,179,704–23,318,037, forward strandBCRIGLL1: 23,573,125–23,580,302, reverse strandIGLL1DRICH1: 23,608,452–23,632,322, reverse strandDRICH1RGL4: 23,688,136–23,699,176, forward strandRGL4ZNF70: 23,738,682–23,751,730, reverse strandVPREB3: 23,752,741–23,754,454, reverse strandVPREB3C22orf15: 23,762,990–23,765,863, forward strandC22orf15CHCHD10: 23,765,834–23,767,972, reverse strandCHCHD10MMP11: 23,768,226–23,784,322, forward strandMMP11SMARCB1: 23,786,931–23,838,009, forward strandDERL3: 23,834,503–23,839,131, reverse strandDERL3SLC2A11: 23,856,703–23,886,312, forward strandSLC2A11: 23,862,188–23,895,223, forward strandDDT: 23,891,180–23,980,544, reverse strandDDTMIF: 23,894,372–23,895,227, forward strandMIFGSTT2B: 23,957,414–23,961,341, reverse strandGSTT2BDDTL: 23,966,881–23,972,558, forward strandDDTLGSTT2: 23,980,058–23,983,915, forward strandGSTT2GSTT4: 23,998,397–24,005,453, reverse strandCABIN1: 24,011,192–24,178,634, forward strandCABIN1SUSD2: 24,181,451–24,191,986, forward strandSUSD2GGT5: 24,210,982–24,245,763, reverse strandGGT5Diagram of CHCHD10: 4 exons on the reverse strand of chromosome 22Exon 2: 4 known disease-causing sitesExon 4: 23,765,834–23,766,026, 193 basesExon 3: 23,766,128–23,766,275, 148 basesExon 2: 23,767,374–23,767,593, 220 basesExon 1: 23,767,834–23,767,972, 139 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 0.7 kb of the gene's 2.1 kb; 429 of those bases code for the protein.

How a genome test reads CHCHD10

4

positions in CHCHD10 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 2.1 kb of CHCHD10, 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.). CHCHD10 gene: coiled-coil-helix-coiled-coil-helix domain containing 10. Retrieved 17 October 2026, from https://dantelabs.com/genes/chchd10

Vancouver

Dante Labs. CHCHD10 gene: coiled-coil-helix-coiled-coil-helix domain containing 10 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/chchd10

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