LINGO1 Chromosome 15
Leucine rich repeat and Ig domain containing 1
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What This Gene Does
Predicted to enable epidermal growth factor receptor binding activity. Predicted to act upstream of or within negative regulation of oligodendrocyte differentiation; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and neuron development. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including extracellular space; glutamatergic synapse; and presynapse. Implicated in autosomal recessive intellectual developmental disorder 64 and glaucoma. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
I-set domain containing
Locus Type
gene with protein product
Location
15q24.3
Ensembl
ENSG00000169783
Associated Conditions (2)
Intellectual disability
autosomal recessive 64
Key Variants
RS767873726
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 64, Intellectual disability
Health Risk
RS750612085
Pathogenic
Intellectual disability, autosomal recessive 64, Intellectual disability
Health Risk
RS757077698
Pathogenic
Intellectual disability, autosomal recessive 64, Intellectual disability
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS767873726 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 64, Intellectual disability |
| RS750612085 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 64, Intellectual disability |
| RS757077698 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 64, Intellectual disability |