2025年3月30日 · GABRD (Gamma-Aminobutyric Acid Type A Receptor Subunit Delta) is a Protein Coding gene. Diseases associated with GABRD include Epilepsy, Idiopathic Generalized 10 and Generalized Epilepsy With Febrile Seizures Plus, Type 1. Among its related pathways are Akt Signaling and NF-kappaB Pathway.

The GABRD gene encodes the δ subunit of the GABA A receptor, which is highly expressed in the brain and mediates tonic inhibition-related signaling. It has also been proven that excessive release of neurotransmitters plays a role in triggering …

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor.

γ-氨基丁酸 (GABA) 是哺乳动物大脑中的主要抑制性神经递质，它作用于 GABA-A 受体，即配体门控氯离子通道。 这些通道的氯离子电导可以通过与 GABA-A 受体结合的药物 (例如苯二氮卓类药物) 进行调节。 GABA-A 受体通常是五聚体，有五种亚基：α、β、γ、δ 和 rho。 该基因编码 delta 亚基。 该基因的突变与全身性癫痫伴热性惊厥 5 型的易感性有关。 已经描述了该基因的选择性剪接转录变体，但其生物学有效性尚未确定。 [RefSeq 提供，2008 年 7 月]

2025年1月4日 · Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor.

GABRD was preferentially upregulated in GC tissues compared with adjacent normal tissues. High GABRD expression was significantly associated with poor survival prognosis. Knockdown of GABRD could markedly induce cell apoptosis and cell cycle arrest while repressing proliferation and migration in vitro, and suppress tumour growth in vivo.

2025年2月8日 · Enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Predicted to be involved in chemical synaptic transmission; chloride transmembrane transport; and gamma-aminobutyric acid signaling pathway. Located in axon; dendrite; and neuronal cell body.

2022年5月24日 · A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missense GABRD variants in 10 patients with neurodevelopme …

The GABRD gene encodes a subunit of the ligand-gated chloride channel for gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the mammalian brain (Windpassinger et al., 2002). Windpassinger et al. (2002) isolated cDNAs corresponding to the human GABRD gene from a human fetal brain cDNA library.

2002年6月12日 · The GABRD gene is expressed most abundantly in brain and has three alternative exons (1A–C) with alternative start codons at the 5′-end. Genomic localisation, function, and expression would suggest that the GABRD gene represents a good candidate for the neurodevelopmental and neuropsychiatric anomalies seen in the 1p36 deletion syndrome.