| 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 |
|
| 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) |
User Manual