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lamtor2

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Official Full Name
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Background
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.
Synonyms
LAMTOR2; late endosomal/lysosomal adaptor, MAPK and MTOR activator 2; roadblock domain containing 3 , ROBLD3; ragulator complex protein LAMTOR2; ENDAP; endosomal adaptor protein; MAPBPIP; MAPKSP1 adaptor protein; MAPKSP1AP; mitogen activated protein bindi; p14; ROBLD3; HSPC003; Ragulator2; RP11-336K24.9; zgc:100811; roadblock domain-containing protein 3; mitogen-activated protein-binding protein-interacting protein; late endosomal/lysosomal ada

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