Features include always present findings: Hyporeflexia, Distal lower limb muscle weakness, Distal sensory impairment, and Unsteady gait and others. 9 total HPO annotations.

MME encodes membrane metalloendopeptidase (750 aa). Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids. Highest expression in Cells Cultured fibroblasts (640.5 TPM) and Nerve Tibial (42.9 TPM).

Charcot-Marie-Tooth disease axonal type 2T is caused by mutations in the MME gene on chromosome 3.

The MME protein participates in LIG3 ligates remaining SSBs in MMEJ, POLQ extends annealed 3'-ssDNA overhangs in MMEJ, and MRN and RBBP8 resect DNA DSBs in MMEJ pathways.

MME is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, and Protease categories) with score 4.7.

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

Phenotype severity distribution: 5 always present features.

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

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

4 publications have been identified in PubMed for Charcot-Marie-Tooth disease axonal type 2T. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Salami Z (2026). [PMID: 41538925](https://pubmed.ncbi.nlm.nih.gov/41538925/). *Neuromuscul Disord*. [Basic Science / Preclinical]

• Lerint AN (2026). [PMID: 41799927](https://pubmed.ncbi.nlm.nih.gov/41799927/). *J Cent Nerv Syst Dis*. [Case Report / Case Series]

• Vitale E (2025). [PMID: 40474765](https://pubmed.ncbi.nlm.nih.gov/40474765/). *IUBMB Life*. [Review / Meta-Analysis]

• Parmar JM (2024). [PMID: 38744462](https://pubmed.ncbi.nlm.nih.gov/38744462/). *J Neurol Neurosurg Psychiatry*. [Review / Meta-Analysis]