ADRB1 Chromosome 10

Adrenoceptor beta 1
2 variants 2 Health Risk

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What This Gene Does
The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019]
Gene Info
Gene Group
Adrenoceptors
Locus Type
gene with protein product
Location
10q25.3
Ensembl
ENSG00000043591
Associated Conditions (7)
Pulmonary disease
chronic obstructive
susceptibility to
ADRB1-related disorder
SHORT SLEEP
FAMILIAL NATURAL
2
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1801253 Health Risk Benign; association Pulmonary disease, chronic obstructive, susceptibility to
RS776439595 Health Risk Pathogenic SHORT SLEEP, FAMILIAL NATURAL, 2
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