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LAMTOR2 - late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
- Synonym(s) : ENDAP, Endosomal adaptor protein, endosomal adaptor protein, MAPBPIP, MAPKSP1 adaptor protein, MAPKSP1AP, Mitogen activated protein binding protein interacting protein, mitogen activated protein binding protein interacting protein, p14, Ragulator2
- Previous symbols and names : ROBLD3, Roadblock domain containing 3, roadblock domain containing 3
- Type : gene with protein product
- Chromosomal location : 1q22
- OMIM: 610389
- HGNC: 29796
- UniProtKB: Q9Y2Q5
- Genatlas: LAMTOR2
- GenCC: LAMTOR2
- Ensembl: ENSG00000116586
- IUPHAR-DB: -
- Reactome: Q9Y2Q5
- LOVD: LAMTOR2
Diseases list
- Disease-causing germline mutation(s) in Primary immunodeficiency syndrome due to LAMTOR2 deficiency
ORPHA:90023 
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
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