LRSAM1 encodes leucine rich repeat and sterile alpha motif containing 1 (723 aa). E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos. Highest expression in Skin Sun Exposed Lower leg (39.5 TPM) and Skin Not Sun Exposed Suprapubic (38.0 TPM).

Charcot-Marie-Tooth disease axonal type 2P is caused by mutations in the LRSAM1 gene on chromosome 9.

LRSAM1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for LRSAM1 is available. Testing is considered confirmatory for diagnosis.

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.

1 publication has been identified in PubMed for Charcot-Marie-Tooth disease axonal type 2P. Research spans Case Report / Case Series (100%).

Recent Publications

• Ducatel P (2025). [PMID: 40721190](https://pubmed.ncbi.nlm.nih.gov/40721190/). *Eur J Med Genet*. [Case Report / Case Series]