LRSAM1
Description
The LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) is a protein-coding gene located on chromosome 9.
LRSAM1 is an enzyme encoded by the LRSAM1 gene in humans. Mutations in this gene are associated with Charcot-Marie-Tooth type 2P, a peripheral neuropathy. Disruption of the mouse Lrsam1 gene has been shown to increase the vulnerability of peripheral axons to acrylamide-induced degeneration. LRSAM1 interacts with TSG101.
LRSAM1 is an E3 ubiquitin ligase that monoubiquitinates TSG101, inhibiting its sorting function for endocytic (e.g., EGF receptors) and exocytic (e.g., HIV-1 viral proteins) cargos. It acts as a bacterial recognition protein, defending the cytoplasm against invasive pathogens. LRSAM1 localizes to intracellular bacterial pathogens, generating ubiquitin signals that trigger autophagy-mediated bacterial degradation (xenophagy).
LRSAM1 is also known as CMT2P, RIFLE, TAL.
