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.
Involvement in disease
Defects in LAMTOR2 are the cause of immunodeficiency due to defect in MAPBP-interacting protein (ID-MAPBPIP) [MIM:610798]. This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency.
Immunohistochemical analysis of paraffin-embedded Human gastric carcinoma labeling robld3 using ab183514 at a 1/50 dilution, using a HRP Polymer for Rabbit IgG secondary antibody and counterstained with Hematoxylin.
Immunohistochemical analysis of paraffin-embedded Human thyroid tissue labeling robld3 using ab183514 at a 1/50 dilution, using a HRP Polymer for Rabbit IgG secondary antibody and counterstained with Hematoxylin.
Western blot - Anti-robld3 antibody [EPR14378] (ab183514)
All lanes : Anti-robld3 antibody [EPR14378] (ab183514) at 1/1000 dilution
Lane 1 : HepG2 cell lysate Lane 2 : Raji cell lysate Lane 3 : LnCaP cell lysate
Lysates/proteins at 10 µg per lane.
Secondary All lanes : Goat Anti-Rabbit IgG, (H+L), Peroxidase conjugated at 1/1000 dilution