GFM1 encodes G elongation factor mitochondrial 1 (751 aa). Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. Highest expression in Brain Cerebellar Hemisphere (46.8 TPM) and Brain Cerebellum (41.0 TPM).

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 is associated with mutations in the GFM1 gene on chromosome 3.

The GFM1 protein participates in Mitochondrial translation elongation and Mitochondrial translation pathways.

GFM1 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for GFM1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 10 always present features, 5 common features.

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

No clinical trials have been registered for hepatoencephalopathy due to combined oxidative phosphorylation defect type 1.

5 publications have been identified in PubMed for hepatoencephalopathy due to combined oxidative phosphorylation defect type 1. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

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

• Cilleros-Holgado P (2025). [PMID: 40002401](https://pubmed.ncbi.nlm.nih.gov/40002401/). *Antioxidants (Basel)*. [Basic Science / Preclinical]

• Nayan A (2024). [PMID: 38532288](https://pubmed.ncbi.nlm.nih.gov/38532288/). *Mov Disord Clin Pract*. [Case Report / Case Series]

• Hughes LA (2024). [PMID: 38779771](https://pubmed.ncbi.nlm.nih.gov/38779771/). *Hum Mol Genet*. [Review / Meta-Analysis]

• Cilleros-Holgado P (2024). [PMID: 38786005](https://pubmed.ncbi.nlm.nih.gov/38786005/). *Biomolecules*. [Basic Science / Preclinical]