DISEASES

Disease-gene associations mined from literature

Literature associating LRSAM1 and Charcot-Marie-Tooth disease axonal type 2P

LRSAM1 [ENSP00000322937]

Leucine-rich repeat and sterile alpha motif-containing protein 1; 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. Bacterial recognition protein that defends the cytoplasm from invasive pathogens. Localizes to several intracellular bacterial pathogens and generates the bacteria- associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy); Ring finger proteins

Synonyms:  LRSAM1,  LRSAM1p,  hLRSAM1,  A0A024R870,  Q6UWE0 ...

Linkouts:  STRING  Pharos  UniProt