LAMTOR2A gene on chromosome 1q22 that encodes a regulator of the TOR pathway, a signalling cascade that promotes cell growth in response to growth factors, energy levels and amino acids. As part of the Ragulator complex, LAMTOR2 recruits the Rag GTPases and the mTORC1 complex to lysosomes, a key step in amino acid activation of the TOR signalling cascade, and enhances the efficiency of the MAP kinase cascade, facilitating MAPK2 activation.
Defects in LAMTOR2 cause immunodeficiency due to defect in MAPBP-interacting protein.
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