IRS1 Chromosome 2
Insulin receptor substrate 1
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What This Gene Does
This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Pleckstrin homology domain containing
Locus Type
gene with protein product
Location
2q36.3
Ensembl
ENSG00000169047
Associated Conditions (2)
IRS1-related disorder
Type 2 diabetes mellitus
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200142054 | Health Risk | Conflicting classifications of pathogenicity | IRS1-related disorder, IRS1-related disorder |
| RS104893642 | Health Risk | Pathogenic | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS1259467443 | Health Risk | Pathogenic | Type 2 diabetes mellitus, Type 2 diabetes mellitus |