Entrez gene ID | | 28956 |
Official gene symbol | | LAMTOR2 |
Full name | | roadblock domain containing 3 |
Aliases | | ,ENDAP,HSPC003,MAPBPIP,MAPKSP1AP,ROBLD3,Ragulator2,p14, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1q22 |
Gene position | | 156024517 - 156028301 Map Viewer |
Gene orientation | | plus |
Gene size | | 3785 bp |
Gene sequence |
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OMIM ID | | 610389 |
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