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Gene

TIMM8A

translocase of inner mitochondrial membrane 8A

Summary

Cytogenetic location
Xq22.1
Coordinates
Chromosome X: 101,345,661–101,348,742 (GRCh38)
Exons
2 exons across 3.1 kb
Protein
97 amino acids
Also known as
DDP, MTS
Previous symbols
DFN1
MANE Select transcript
ENST00000372902.4NM_004085.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Deafness-Dystonia-Optic Neuronopathy Syndrome

    • Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg) SyndromeX-linked recessive

      An X-linked condition caused by changes in TIMM8A, with hearing loss beginning in early childhood followed by dystonia and optic atrophy.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      Actionability

      Recognising it early avoids mistaking it for isolated hearing loss and allows counselling of female carriers in the family.

How TIMM8A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where TIMM8A sits. TIMM8A and 18 genes near it on chromosome X, from 100,847,202 to 101,847,201.Chromosome XXq22.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28101 Mb101.2 Mb101.4 Mb101.6 Mb101.8 MbNOX1: 100,843,324–100,874,464, reverse strandNOX1XKRX: 100,886,924–100,929,433, reverse strandXKRXARL13A: 100,969,708–100,990,831, forward strandARL13ATRMT2B: 100,973,670–101,052,135, reverse strandTRMT2BTMEM35A: 101,078,870–101,096,367, forward strandTMEM35ACENPI: 101,098,150–101,166,126, forward strandCENPIDRP2: 101,219,723–101,264,502, forward strandDRP2TAF7L: 101,268,253–101,293,057, reverse strandTAF7LTIMM8A: 101,345,661–101,348,742, reverse strandTIMM8ABTK: 101,349,338–101,390,796, reverse strandBTKRPL36A: 101,390,824–101,396,155, forward strandRPL36ARPL36A-HNRNPH2: 101,391,011–101,412,297, forward strandRPL36A-HNRNPH2GLA: 101,393,273–101,408,012, reverse strandGLAHNRNPH2: 101,408,114–101,414,778, forward strandARMCX4: 101,418,269–101,535,551, forward strandARMCX1: 101,550,411–101,554,704, forward strandARMCX1ARMCX6: 101,615,118–101,618,011, reverse strandARMCX6ARMCX3: 101,622,797–101,627,843, forward strandARMCX3ARMCX2: 101,654,024–101,659,924, reverse strandARMCX2Diagram of TIMM8A: 2 exons on the reverse strand of chromosome XExon 2: 5 known disease-causing sitesExon 1: 5 known disease-causing sitesExon 2: 101,345,661–101,346,660, 1,000 basesExon 1: 101,348,533–101,348,742, 210 bases215′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 1.2 kb of the gene's 3.1 kb; 294 of those bases code for the protein.

Sequencing TIMM8A

39High

How hard TIMM8A is to sequence with short reads, out of 100

  • Mappability39%
  • Homology83%
  • Repeats0%
  • GC content6.2%
  • Reference coverage0%

14

positions in TIMM8A where ClinVar classes a change as pathogenic or likely pathogenic

6 of them (43%) fall in regions short reads find hard.

  • Segmental duplications (6 sites)

A whole genome covers all 3.1 kb of TIMM8A, introns included, not only the 1.2 kb of exons.

Traits linked to TIMM8A

The Human Phenotype Ontology lists these as features of the rare conditions TIMM8A can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.18-e609d43e.

Cite this page

APA

Dante Labs. (n.d.). TIMM8A gene: translocase of inner mitochondrial membrane 8A. Retrieved 18 October 2026, from https://dantelabs.com/genes/timm8a

Vancouver

Dante Labs. TIMM8A gene: translocase of inner mitochondrial membrane 8A [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/timm8a

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