Gene Symbol | LAMTOR2 |
Entrez Gene ID | 28956 |
Full Name | late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 |
Synonyms | ENDAP,HSPC003,MAPBPIP,MAPKSP1AP,ROBLD3,Ragulator2,p14 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3) |