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gamma-aminobutyric acid type B receptor subunit 1 OKDB#: 90
 Symbols: GABBR1 Species: human
 Synonyms: GB1, GPRC3A, GABABR1, GABBR1-3  Locus: 6p21.31 in Homo sapiens
HPMR


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment GABA, the predominant inhibitory neurotransmitter present in the mammalian CNS, is also found in the periphery. GABA actions are mediated by the ionotropic GABA(A)/GABA(C) receptors, as well as the metabotropic GABA(B) receptor. The metabotropic GABA-B receptors are coupled to G proteins and modulate synaptic transmission through intracellular effector systems Goei et al. (1998).

NCBI Summary: This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
General function Receptor
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Oocyte, Cumulus, Granulosa
Comment Different transcriptional levels of GABAA receptor subunits in mouse cumulus cells around oocytes at different mature stage. Gynecol Endocrinol. 2016 PMID: 27345459 By using reverse transcriptase-polymerase chain reaction with a specific set of primers for two isoform of metabotropic GABAB receptor and Southern blot analysis, Castelli et al. 1998 found that both isoforms of the GABA(B) receptor are expressed not only throughout the brain but also in all peripheral organs examined, including ovary and testis. Schaeffer et al. (1982) demonstrated high affinity (Kd = 15-21 nM), specific GABA binding sites in the rat ovaries by specific 3H-muscimol binding and the majority of GABA binding sites were associated with the granulosa cells. Amenta et al. (1986) studied the distribution of 3H-muscimol within guinea pig ovary using combined radioreceptor binding studies and histoautoradiographic technique. 3H-muscimol was bound by sections of ovary in a manner consistent with the existence of specific GABA receptors. 3H muscimol binding sites were found in the follicle and in the oocytes. The number of oocyte and follicular receptors gradually decreases during the development of ovarian follicles.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Aug. 2, 1999, midnight by: Hsueh   email:
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last update: June 29, 2016, 10:43 a.m. by: hsueh    email:



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