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Gene

AIFM1

apoptosis inducing factor mitochondria associated 1

Summary

Cytogenetic location
Xq26.1
Coordinates
Chromosome X: 130,129,362–130,165,841 (GRCh38)
Exons
16 exons across 36.5 kb
Protein
613 amino acids
Also known as
AIF, CMTX4, DFNX5
Previous symbols
PDCD8, NAMSD, AUNX1
MANE Select transcript
ENST00000287295.8NM_004208.4
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

  • Hearing Loss and Deafness

    • Auditory Neuropathy

      Hearing loss in which the inner ear detects sound but the signal is not passed on normally to the hearing nerve, including inherited forms caused by OTOF and other genes.

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

      Identifying the cause can affect the choice between hearing aids and cochlear implants, and OTOF-related forms are the subject of gene-therapy trials.

    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

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

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

  • Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)

    • Hereditary Sensory and Autonomic Neuropathy

      A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.

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

      Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).

  • Primary Mitochondrial Disease

    • Combined Oxidative Phosphorylation Deficiency

      Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.

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

      Knowing can end a diagnostic search and guide surveillance and supportive care.

Broader groupings

  • Charcot-Marie-Tooth Disease

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

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

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

  • 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

How AIFM1 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 AIFM1 sits. AIFM1 and 13 genes near it on chromosome X, from 129,647,602 to 130,647,601.Chromosome XXq26.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28129.8 Mb130 Mb130.2 Mb130.4 Mb130.6 MbAPLN: 129,645,259–129,654,965, reverse strandAPLNXPNPEP2: 129,738,949–129,770,164, forward strandXPNPEP2SASH3: 129,779,901–129,795,201, forward strandSASH3ZDHHC9: 129,797,030–129,844,215, reverse strandZDHHC9UTP14A: 129,906,114–129,929,957, forward strandUTP14ABCORL1: 129,981,107–130,058,071, forward strandBCORL1ELF4: 130,063,955–130,110,951, reverse strandELF4AIFM1: 130,129,362–130,165,841, reverse strandAIFM1RAB33A: 130,171,720–130,184,874, forward strandRAB33AZNF280C: 130,202,699–130,268,923, reverse strandZNF280CSLC25A14: 130,339,886–130,373,453, forward strandSLC25A14GPR119: 130,379,449–130,385,674, reverse strandGPR119RBMX2: 130,401,922–130,462,404, forward strandRBMX2ENOX2: 130,622,325–130,903,272, reverse strandENOX2Diagram of AIFM1: 16 exons on the reverse strand of chromosome XExon 15: 1 known disease-causing siteExon 13: 5 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 7: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 16: 130,129,362–130,129,628, 267 basesExon 15: 130,129,970–130,130,166, 197 basesExon 14: 130,131,675–130,131,799, 125 basesExon 13: 130,133,313–130,133,455, 143 basesExon 12: 130,136,045–130,136,185, 141 basesExon 11: 130,136,643–130,136,731, 89 basesExon 10: 130,137,078–130,137,185, 108 basesExon 9: 130,138,593–130,138,701, 109 basesExon 8: 130,139,795–130,139,871, 77 basesExon 7: 130,140,533–130,140,617, 85 basesExon 6: 130,145,479–130,145,569, 91 basesExon 5: 130,147,493–130,147,623, 131 basesExon 4: 130,147,752–130,147,876, 125 basesExon 3: 130,149,469–130,149,568, 100 basesExon 2: 130,156,461–130,156,603, 143 basesExon 1: 130,165,551–130,165,841, 291 bases16141210864215′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 2.2 kb of the gene's 36.5 kb; 1,842 of those bases code for the protein.

How a genome test reads AIFM1

19

positions in AIFM1 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 36.5 kb of AIFM1, introns included, not only the 2.2 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.). AIFM1 gene: apoptosis inducing factor mitochondria associated 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/aifm1

Vancouver

Dante Labs. AIFM1 gene: apoptosis inducing factor mitochondria associated 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aifm1

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