AIFM1 encodes apoptosis inducing factor mitochondria associated 1 (613 aa). Functions both as NADH oxidoreductase and as regulator of apoptosis. Highest expression in Adrenal Gland (62.8 TPM) and Cells EBV-transformed lymphocytes (58.3 TPM).

Severe X-linked mitochondrial encephalomyopathy is associated with mutations in the AIFM1 gene on chromosome X.

AIFM1 is classified as a druggable target (Druggable Genome category) with score 5.2.

Genetic testing for AIFM1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for severe X-linked mitochondrial encephalomyopathy has been reported in the published literature.

Phenotype severity distribution: 9 always present features, 12 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for severe X-linked mitochondrial encephalomyopathy.

32 publications have been identified in PubMed for severe X-linked mitochondrial encephalomyopathy. Research spans Basic Science / Preclinical (56%), Review / Meta-Analysis (16%), and Case Report / Case Series (13%).

Recent Publications

• Demir M (2026). [PMID: 41592542](https://pubmed.ncbi.nlm.nih.gov/41592542/). *Allergy Asthma Immunol Res*. [Epidemiology / Natural History]

• Thoma F (2026). [PMID: 41512010](https://pubmed.ncbi.nlm.nih.gov/41512010/). *PLoS Genet*. [Basic Science / Preclinical]

• Villafan-Bernal JR (2026). [PMID: 41614925](https://pubmed.ncbi.nlm.nih.gov/41614925/). *Curr Issues Mol Biol*. [Review / Meta-Analysis]

• Torres-Haro A (2026). [PMID: 41701386](https://pubmed.ncbi.nlm.nih.gov/41701386/). *World J Microbiol Biotechnol*. [Basic Science / Preclinical]

• Catinelli BB (2026). [PMID: 41308893](https://pubmed.ncbi.nlm.nih.gov/41308893/). *Biochim Biophys Acta Mol Basis Dis*. [Basic Science / Preclinical]

• Tang B (2026). [PMID: 41608526](https://pubmed.ncbi.nlm.nih.gov/41608526/). *Research (Wash D C)*. [Case Report / Case Series]

• Gao X (2026). [PMID: 41897749](https://pubmed.ncbi.nlm.nih.gov/41897749/). *Foods*. [Basic Science / Preclinical]

• Molina-Berenguer M (2026). [PMID: 41998139](https://pubmed.ncbi.nlm.nih.gov/41998139/). *EMBO Mol Med*. [Gene Therapy / Novel Therapeutics]

• Malyutina A (2026). [PMID: 41782446](https://pubmed.ncbi.nlm.nih.gov/41782446/). *Dis Model Mech*. [Basic Science / Preclinical]

• Mihalikova D (2025). [PMID: 39351780](https://pubmed.ncbi.nlm.nih.gov/39351780/). *Eur J Prev Cardiol*. [Basic Science / Preclinical]