Gene: LAMTOR3

Alternate names for this Gene: MAP2K1IP1|MAPBP|MAPKSP1|MP1|PRO0633|Ragulator3

Gene Summary: This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13.

Gene is located in Chromosome: 4

Location in Chromosome : 4q23

Description of this Gene: late endosomal/lysosomal adaptor, MAPK and MTOR activator 3

Type of Gene: protein-coding

rs6532835 in LAMTOR3 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.