LAMTOR2 Chromosome 1
Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
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What This Gene Does
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]
Gene Info
Gene Group
Ragulator complex
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000116586
Associated Conditions (1)
Primary immunodeficiency syndrome due to p14 deficiency
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS750943723 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency syndrome due to p14 deficiency, Primary immunodeficiency syndrome due to p14 deficiency |