Literature associating LAMTOR2 and autosomal dominant severe congenital neutropenia
Late endosomal/lysosomal adaptor and MAPK and MTOR activator 2; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2; Belongs to the GAMAD family.
Synonyms: LAMTOR2, LAMTOR2p, hLAMTOR2, Q9Y2Q5, ENDAP ...