Disease-gene associations mined from literature

Literature associating LAMTOR2 and autosomal dominant severe congenital neutropenia

LAMTOR2 [ENSP00000357288]

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 ...

Linkouts:  STRING  Pharos  UniProt