GABRR1
GABRR1 is a gene that encodes the Gamma-aminobutyric acid (GABA) A receptor, rho 1, in humans. GABA is the primary inhibitory neurotransmitter in the mammalian central nervous system, and it exerts its effects through ionotropic GABA receptors, as well as metabotropic GABAB receptors. GABRR1 is a member of the rho subunit family and is a component of the GABAA receptor complex.
Function[edit | edit source]
The GABRR1 gene is part of the GABA-A receptor family of genes, which encode receptor subunits for the neurotransmitter GABA. GABA is the primary inhibitory neurotransmitter in the mammalian central nervous system. The GABRR1 gene encodes the rho 1 subunit of the GABA-A receptor. This subunit, along with other subunits, forms a pentameric receptor complex that responds to GABA. The rho 1 subunit is primarily expressed in the retina and has been implicated in retinal function.
Clinical Significance[edit | edit source]
Mutations in the GABRR1 gene have been associated with various neurological disorders, including epilepsy, schizophrenia, and alcohol dependence. However, the exact role of GABRR1 in these conditions is not fully understood and is the subject of ongoing research.
See Also[edit | edit source]
References[edit | edit source]
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