LAMTOR2 Human Recombinant Protein

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]

LAMTOR2: Adapter protein that enhances the efficiency of the MAP kinase cascade. Facilitates the activation of MAPKAPK2 . Heterodimer with MAP2K1IP1. Interacts with ERK and MEK1. Defects in ROBLD3 are the cause of immunodeficiency due to defect in MAPBP-interacting protein. This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. Two alternatively spliced isoforms of the human protein have been described.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 1q22

Cellular Component: lysosomal membrane; late endosome

Molecular Function: protein binding; guanyl-nucleotide exchange factor activity; protein complex scaffold

Biological Process: activation of MAPKK activity; cell growth; positive regulation of TOR signaling pathway; positive regulation of GTPase activity

Disease: Immunodeficiency Due To Defect In Mapbp-interacting Protein