LRSAM1 encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. LRSAM1 (Leucine Rich Repeat And Sterile Alpha Motif Containing 1) is a Protein Coding gene. Diseases associated with LRSAM1 include Charcot-Marie-Tooth Disease, Axonal, Type 2P and Roussy-Levy Syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System.
