{"symbol":"LAMTOR2","synonyms":["MAPBPIP","HSPC003","MAPKSP1AP","ROBLD3","ENDAP","RAGULATOR2"],"name":"late endosomal/lysosomal adaptor, MAPK and MTOR activator 2","description":"The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]","ncbiEntrezGeneId":28956,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/28956","proteins":[{"symbol":"LTOR2_HUMAN","href":"/api/1.0/protein/LTOR2_HUMAN"}],"hgncRootFamilies":[]}