ADRA2A Chromosome 10

Adrenoceptor alpha 2A
1 variant 1 Health Risk

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What This Gene Does
Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. The alpha-2-adrenergic receptors are a type of adrenergic receptors (for adrenaline or epinephrine), which inhibit adenylate cyclase. These receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. They are involved in regulating the release of neurotransmitter molecules from sympathetic nerves and from adrenergic neurons in the central nervous system. The sympathetic nervous system regulates cardiovascular function by activating adrenergic receptors in the heart, blood vessels and kidney. Studies in mouse revealed that both the alpha2A and alpha2C receptor subtypes were required for presynaptic transmitter release from the sympathetic nervous system in the heart and from central noradrenergic neurons. The alpha-2-adrenergic receptors are also involved in catecholamine signaling by extracellular regulated protein kinase 1 and 2 (ERK1/2) pathways. A clear association between the alpha-2-adrenergic receptor and disease has not been yet established. [provided by RefSeq, Sep 2019]
Gene Info
Gene Group
Adrenoceptors
Locus Type
gene with protein product
Location
10q25.2
Ensembl
ENSG00000150594
Associated Conditions (3)
Lipodystrophy
familial partial
type 8
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS553668 Health Risk Pathogenic Lipodystrophy, familial partial, type 8
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