【佳学基因检测】GABRD有突变该用什么药物?
基因检测的序列名称:
GABRD
人体基因序列变化与疾病表征数据库中的基因代码:
2563
人体基因序列数据库中国际交流名称全称
gamma-aminobutyric acid type A receptor delta subunit
中国数据库中基因全称:
γ-氨基丁酸A型受体δ亚基
基因检测报告英文版基因简介
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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
基因突变所影响的基因信息
γ-氨基丁酸(GABA)是哺乳动物大脑中主要的抑制性神经递质,在其中它作用于GABA-A受体,该受体是配体门控的氯离子通道。这些通道的氯化物电导率可以通过与GABA-A受体结合的试剂(例如苯二氮杂)来调节。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δ亚基。该基因的突变与5型高热惊厥对全身性癫痫的易感性有关。已描述了该基因的剪接转录变体,但尚未确定其生物学有效性。[由RefSeq提供,2008年7月]
国际国内该碱基基因序列的其他英语文字母简称:
EIG10, EJM7, GEFSP5
基因解码对该基因序列在细胞核中的染色体所给予的编号:
该基因序列位于人类第1号染色体上。
基因解码对基因序列的正确定位
该基因序列在GRCh37版本中的起始位置坐标为:1950768;结束位置坐标为:1962192。该基因序列在GRCh38版本中的起始位置坐标为:2019329;结束位置坐标为:2030753。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。
佳学基因解码对该基因的功能分类:国际版
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基因解码对该基因的功能分类:中文版
正在通过基因解码技术进行收集、查证并编辑,请关注佳学基因,获得及时更新的人类基因序列变化与疾病表征数据库的更新内容
结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所(国际版):
Golgi apparatus;Vesicles
结构与功能基因解码所揭示的该基因发挥作用的细胞内位置(中文版):
高尔基体;囊泡
该基因序列变化后增加的疾病风险(国际版):
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; Chromosome 1p36 Deletion Syndrome; Straight eyebrows; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; Myoclonic Epilepsy, Juvenile; Idiopathic generalized epilepsy; Self-Injurious Behavior; High-grade hypermetropia; Late fontanel closure; Pointed chin; Poor speech; Problems speaking; Stereotyped Behavior; Stereotypic Movement Disorder; Absent speech; nonverbal; Depressed nasal ridge; Enophthalmos; Sunken eyes; Hypoplastic feet; Flexion contracture of proximal interphalangeal joint; Heartburn; Microstomia; Gastroesophageal reflux disease; Agenesis of corpus callosum; Brachycephaly; Broad cranium shape; Wide skull shape; Electroencephalogram abnormal; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Bilateral fifth finger clinodactyly; Curvature of little finger; Low-set, posteriorly rotated ears; Dilated ventricles (finding); Brachydactyly; Deglutition Disorders; Gait abnormality; Long philtrum; Dyschezia; Constipation; Feeding difficulties in infancy; Congenital Epicanthus; Cerebral atrophy; Mood Disorders; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Broad flat nasal bridge; Nasal bridge wide; Strabismus; Autistic Disorder; Failure to gain weight; Pediatric failure to thrive; Small head; Epilepsy; Muscle hypotonia; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia
如果该基因突变后,风险可能增加的疾病类型(中文版):
癫痫特发性全身性易感性12型;染色体 1p36 缺失综合征;平直的眉毛;全身性癫痫伴热性惊厥 PLUS1 型;肌阵挛性癫痫青少年;特发性全身性癫痫;自残行为;高度远视;囟门晚闭;尖下巴;口齿不清;说话有问题;刻板行为;刻板运动障碍;缺席演讲;非语言的;鼻梁凹陷;眼球内陷;凹陷的眼睛;发育不全的脚;近端指间关节屈曲挛缩;胃灼热;小口症;胃食管反流病;胼胝体发育不全;短头畸形;宽颅骨形状;宽颅骨形状;脑电图异常;面部中部突出减少;中面部营养不良;面中部后缩;中脸小;双侧小指弯曲;小指弯曲;位置低、向后旋转的耳朵;扩张的心室(发现);短指;吞咽障碍;步态异常;长人中;排便困难;便秘;婴儿喂养困难;先天性内眦赘皮;脑萎缩;情绪障碍;鼻梁凹陷;鼻梁凹陷;鼻根/鼻梁凹陷;宽扁的鼻梁;鼻梁宽;斜视;自闭症;未能增加体重;儿科发育不良;小头;癫痫;肌肉张力减退;癫痫发作;认知延迟;整体发育迟缓;智力和运动迟缓;智力迟钝;智力低下;智力低下;精神缺陷;学习成绩差;智力残疾;精神分裂症
GWAS基因检测所建立的与该基因的疾病关联(国际版):
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GWAS基因检测所解码的该基因突变会增加风险的疾病种类(中文版):
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以该基因做靶点的药物(国际版):
Temazepam (Gaba-a receptor activity);Adinazolam (Gaba-a receptor activity);Midazolam (Gaba-a receptor activity);Flurazepam (Gaba-a receptor activity);Halazepam (Gaba-a receptor activity);Diazepam (Gaba-a receptor activity);Oxazepam (Gaba-a receptor activity);Triazolam (Gaba-a receptor activity);Ethanol (Gaba-a receptor activity);Estazolam (Gaba-a receptor activity);Bromazepam (Gaba-a receptor activity);Clotiazepam (Gaba-a receptor activity);Fludiazepam (Gaba-a receptor activity);Ketazolam (Gaba-a receptor activity);Prazepam (Gaba-a receptor activity);Quazepam (Gaba-a receptor activity);Cinolazepam (Gaba-a receptor activity);Nitrazepam (Gaba-a receptor activity)
针对该基因所产生的突变,可能有正确效果的药物(中文版):
替马西泮(Gaba-a 受体活性);阿地那唑仑(Gaba-a 受体活性);咪达唑仑(Gaba-a 受体活性);氟拉西泮(Gaba-a 受体活性);哈拉西泮(Gaba-a 受体活性);地西泮(Gaba-a 受体活性)受体活性);奥沙西泮(Gaba-a 受体活性);三唑仑(Gaba-a 受体活性);乙醇(Gaba-a 受体活性);艾司唑仑(Gaba-a 受体活性);溴西泮(Gaba-a 受体活性);氯硫西泮(Gaba-a 受体活性);氟地西泮(Gaba-a 受体活性);Ketazolam(Gaba-a 受体活性);Prazepam(Gaba-a 受体活性);Quazepam(Gaba-a 受体活性);Cinolazepam(Gaba-a 受体活性)活性);硝西泮(Gaba-a 受体活性)
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