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 …

2024年12月25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.

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]

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 …

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.

Ahring et al. show that gain-of-function variants in GABRD, which encodes the δ subunit of extrasynaptic GABA A Rs, can give rise to neurodevelopmental disorders with generalized epilepsy. Hence, abnormal neurotransmission due to increases in tonic GABA-evoked currents constitutes an important new pathway for epileptic disorders.

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.

2024年11月27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.

2016年9月14日 · Gene target information for GABRD - gamma-aminobutyric acid type A receptor subunit delta (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.