ADORA1 Chromosome 1

Adenosine A1 receptor
2 variants 2 Health Risk

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What This Gene Does
The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Adenosine receptors
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000163485
Associated Conditions (1)
ADORA1-related disorder
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS61731146 Health Risk Conflicting classifications of pathogenicity ADORA1-related disorder, ADORA1-related disorder
RS79599913 Health Risk Conflicting classifications of pathogenicity
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