【佳學(xué)基因檢測】GABRA1疾病風(fēng)險評估的作用

基因檢測的序列名稱：

GABRA1

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2554

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

gamma-aminobutyric acid type A receptor alpha1 subunit

中國數(shù)據(jù)庫中基因全稱：

γ-氨基丁酸A型受體alpha1亞基

基因檢測報告英文版基因簡介

This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

基因突變所影響的基因信息

該基因編碼γ-氨基丁酸（GABA）受體。GABA是哺乳動物大腦中主要的抑制性神經(jīng)遞質(zhì)，在GABA-A受體上起作用，該受體是配體門控的氯離子通道。這些通道的氯化物電導(dǎo)率可以通過與GABA-A受體結(jié)合的試劑（例如苯二氮雜）來調(diào)節(jié)。GABA-A受體是五聚體，由幾種亞基的蛋白質(zhì)組成：α，β，γ，δ和rho。該基因的突變會引起青少年肌陣攣性癲癇和兒童期癲癇型4型。已為該基因鑒定出了編碼同一蛋白的多種轉(zhuǎn)錄物變體。[由RefSeq提供，2008年7月]

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

ECA4, EIEE19, EJM, EJM5

基因解碼對該基因序列在細(xì)胞核中的染色體所給予的編號：

該基因序列位于人類第5號染色體上。

基因解碼對基因序列的正確定位

該基因序列在GRCh37版本中的起始位置坐標(biāo)為：161274197；結(jié)束位置坐標(biāo)為：161326965。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：161847191；結(jié)束位置坐標(biāo)為：161899959。正確的基因信息定位是基因檢測和對檢測結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對該基因的功能分類：國際版

Transporters/Transporter channels and pores

基因解碼對該基因的功能分類：中文版

轉(zhuǎn)運體/轉(zhuǎn)運體通道和孔

結(jié)構(gòu)與功能基因解碼所揭示的該基因在細(xì)胞內(nèi)發(fā)揮作用的場所（國際版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細(xì)胞內(nèi)位置（中文版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

該基因序列變化后增加的疾病風(fēng)險（國際版）：

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; Essential Tremor; Hemiclonic seizures; EPILEPSY, CHILDHOOD ABSENCE, 1; Obtundation status; Infantile Severe Myoclonic Epilepsy; Focal Clonic Seizures; Myoclonic Epilepsy, Juvenile; Epileptic drop attack; Hypotonic seizures; Febrile Convulsions; Ataxia; Hepatic Encephalopathy; Absence Epilepsy; Epileptic encephalopathy; Alcoholic Intoxication; Generalized myoclonic seizures; Epilepsies, Myoclonic; Ovarian Cysts; Alcohol abuse; AMYOTROPHIC LATERAL SCLEROSIS 1; Myoclonic Epilepsies, Progressive; Abnormal behavior; Photosensitivity of skin; Status Epilepticus; Electroencephalogram abnormal; Tremor; Mood Disorders; Cerebellar Ataxia; Autistic Disorder; Alcoholic Intoxication, Chronic; Bipolar Disorder; Muscle hypotonia; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia

如果該基因突變后，風(fēng)險可能增加的疾病類型（中文版）：

癲癇特發(fā)性全身性易感性12型；癲癇性腦病早期嬰兒19 型；特發(fā)性震顫；半陣攣發(fā)作；癲癇兒童缺失2型；遲鈍狀態(tài)；嬰兒嚴(yán)重肌陣攣性癲癇；局灶性陣攣發(fā)作；肌陣攣性癲癇青少年；癲癇發(fā)作；低滲性癲癇發(fā)作；熱性驚厥；共濟(jì)失調(diào)；肝性腦病;失神性癲癇；癲癇性腦病；酒精中毒；全身性肌陣攣發(fā)作；癲癇、肌陣攣；卵巢囊腫;濫用酒精;肌萎縮側(cè)索硬化 2型；肌陣攣性癲癇進(jìn)行性；異常行為;皮膚光敏性；癲癇持續(xù)狀態(tài)；腦電圖異常；震顫;情緒障礙；小腦性共濟(jì)失調(diào)；自閉癥；酒精中毒慢性；躁郁癥;肌肉張力減退；認(rèn)知延遲；整體發(fā)育遲緩；智力和運動遲緩；智力遲鈍；智力低下；智力低下；精神缺陷；學(xué)習(xí)成績差；智力殘疾;精神分裂癥

GWAS基因檢測所建立的與該基因的疾病關(guān)聯(lián)（國際版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

GWAS基因檢測所解碼的該基因突變會增加風(fēng)險的疾病種類（中文版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

以該基因做靶點的藥物（國際版）：

Lorazepam (Inhibitory extracellular ligand-gated ion channel activity);Ethchlorvynol (Inhibitory extracellular ligand-gated ion channel activity);Enflurane (Inhibitory extracellular ligand-gated ion channel activity);Temazepam (Inhibitory extracellular ligand-gated ion channel activity);Temazepam (Inhibitory extracellular ligand-gated ion channel activity);Butabarbital (Inhibitory extracellular ligand-gated ion channel activity);Butalbital (Inhibitory extracellular ligand-gated ion channel activity);Butalbital (Inhibitory extracellular ligand-gated ion channel activity);Topiramate (Inhibitory extracellular ligand-gated ion channel activity);Topiramate (Inhibitory extracellular ligand-gated ion channel activity);Etomidate (Inhibitory extracellular ligand-gated ion channel activity);Etomidate (Inhibitory extracellular ligand-gated ion channel activity);Talbutal (Inhibitory extracellular ligand-gated ion channel activity);Talbutal (Inhibitory extracellular ligand-gated ion channel activity);Pentobarbital (Inhibitory extracellular ligand-gated ion channel activity);Pentobarbital (Inhibitory extracellular ligand-gated ion channel activity);Olanzapine (Inhibitory extracellular ligand-gated ion channel activity);Clobazam (Inhibitory extracellular ligand-gated ion channel activity);Meprobamate (Inhibitory extracellular ligand-gated ion channel activity);Meprobamate (Inhibitory extracellular ligand-gated ion channel activity);Eszopiclone (Inhibitory extracellular ligand-gated ion channel activity);Eszopiclone (Inhibitory extracellular ligand-gated ion channel activity);Alprazolam (Inhibitory extracellular ligand-gated ion channel activity);Secobarbital (Inhibitory extracellular ligand-gated ion channel activity);Zolpidem (Inhibitory extracellular ligand-gated ion channel activity);Metharbital (Inhibitory extracellular ligand-gated ion channel activity);Metharbital (Inhibitory extracellular ligand-gated ion channel activity);Picrotoxin (Inhibitory extracellular ligand-gated ion channel activity);Methohexital (Inhibitory extracellular ligand-gated ion channel activity);Chlordiazepoxide (Inhibitory extracellular ligand-gated ion channel activity);Amoxapine (Inhibitory extracellular ligand-gated ion channel activity);Amoxapine (Inhibitory extracellular ligand-gated ion channel activity);Adinazolam (Inhibitory extracellular ligand-gated ion channel activity);Thiopental (Inhibitory extracellular ligand-gated ion channel activity);Clorazepate (Inhibitory extracellular ligand-gated ion channel activity);Acamprosate (Inhibitory extracellular ligand-gated ion channel activity);Midazolam (Inhibitory extracellular ligand-gated ion channel activity);Flurazepam (Inhibitory extracellular ligand-gated ion channel activity);Isoflurane (Inhibitory extracellular ligand-gated ion channel activity);Isoflurane (Inhibitory extracellular ligand-gated ion channel activity);Primidone (Inhibitory extracellular ligand-gated ion channel activity);Primidone (Inhibitory extracellular ligand-gated ion channel activity);Halazepam (Inhibitory extracellular ligand-gated ion channel activity);Halazepam (Inhibitory extracellular ligand-gated ion channel activity);Propofol (Inhibitory extracellular ligand-gated ion channel activity);Diazepam (Inhibitory extracellular ligand-gated ion channel activity);Diazepam (Inhibitory extracellular ligand-gated ion channel activity);Progabide (Inhibitory extracellular ligand-gated ion channel activity);Oxazepam (Inhibitory extracellular ligand-gated ion channel activity);Oxazepam (Inhibitory extracellular ligand-gated ion channel activity);Methylphenobarbital (Inhibitory extracellular ligand-gated ion channel activity);Triazolam (Inhibitory extracellular ligand-gated ion channel activity);Triazolam (Inhibitory extracellular ligand-gated ion channel activity);Ethanol (Inhibitory extracellular ligand-gated ion channel activity);Zaleplon (Inhibitory extracellular ligand-gated ion channel activity);Methoxyflurane (Inhibitory extracellular ligand-gated ion channel activity);Methoxyflurane (Inhibitory extracellular ligand-gated ion channel activity);Ergoloid mesylate (Inhibitory extracellular ligand-gated ion channel activity);Clonazepam (Inhibitory extracellular ligand-gated ion channel activity);Methyprylon (Inhibitory extracellular ligand-gated ion channel activity);Methyprylon (Inhibitory extracellular ligand-gated ion channel activity);Thiamylal (Inhibitory extracellular ligand-gated ion channel activity);Halothane (Inhibitory extracellular ligand-gated ion channel activity);Halothane (Inhibitory extracellular ligand-gated ion channel activity);Phenobarbital (Inhibitory extracellular ligand-gated ion channel activity);Desflurane (Inhibitory extracellular ligand-gated ion channel activity);Zopiclone (Inhibitory extracellular ligand-gated ion channel activity);Flumazenil (Inhibitory extracellular ligand-gated ion channel activity);Flumazenil (Inhibitory extracellular ligand-gated ion channel activity);Estazolam (Inhibitory extracellular ligand-gated ion channel activity);Estazolam (Inhibitory extracellular ligand-gated ion channel activity);Sevoflurane (Inhibitory extracellular ligand-gated ion channel activity);Sevoflurane (Inhibitory extracellular ligand-gated ion channel activity);Dihydroquinidine barbiturate (Inhibitory extracellular ligand-gated ion channel activity);Quinidine barbiturate (Inhibitory extracellular ligand-gated ion channel activity);Amobarbital (Inhibitory extracellular ligand-gated ion channel activity);Aprobarbital (Inhibitory extracellular ligand-gated ion channel activity);Butethal (Inhibitory extracellular ligand-gated ion channel activity);Heptabarbital (Inhibitory extracellular ligand-gated ion channel activity);Hexobarbital (Inhibitory extracellular ligand-gated ion channel activity);Ginkgo biloba (Inhibitory extracellular ligand-gated ion channel activity);Glutethimide (Inhibitory extracellular ligand-gated ion channel activity);Glutethimide (Inhibitory extracellular ligand-gated ion channel activity);Barbital (Inhibitory extracellular ligand-gated ion channel activity);Barbituric acid derivative (Inhibitory extracellular ligand-gated ion channel activity);Bromazepam (Inhibitory extracellular ligand-gated ion channel activity);Clotiazepam (Inhibitory extracellular ligand-gated ion channel activity);Fludiazepam (Inhibitory extracellular ligand-gated ion channel activity);Ketazolam (Inhibitory extracellular ligand-gated ion channel activity);Prazepam (Inhibitory extracellular ligand-gated ion channel activity);Prazepam (Inhibitory extracellular ligand-gated ion channel activity);Quazepam (Inhibitory extracellular ligand-gated ion channel activity);Quazepam (Inhibitory extracellular ligand-gated ion channel activity);Cinolazepam (Inhibitory extracellular ligand-gated ion channel activity);Nitrazepam (Inhibitory extracellular ligand-gated ion channel activity);Prasterone (Inhibitory extracellular ligand-gated ion channel activity);Ganaxolone (Inhibitory extracellular ligand-gated ion channel activity);Thiocolchicoside (Inhibitory extracellular ligand-gated ion channel activity)

針對該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

勞拉西泮（抑制細(xì)胞外配體門控離子通道活性）；乙氯維諾（抑制細(xì)胞外配體門控離子通道活性）；恩氟烷（抑制細(xì)胞外配體門控離子通道活性）；替馬西泮（抑制細(xì)胞外配體門控離子通道活性）；替馬西泮（ Inhibitory extracellular ligand-gated ion channel activity);Butabarbital(抑制胞外配體門控離子通道活性);Butalbital(抑制胞外配體門控離子通道活性);Butalbital(抑制胞外配體門控離子通道活性);托吡酯(抑制胞外配體門離子通道活性)配體門控離子通道活性）；托吡酯（抑制性細(xì)胞外配體門控離子通道活性）；依托咪酯（抑制性細(xì)胞外配體門控離子通道活性）；依托咪酯（抑制性細(xì)胞外配體門控離子通道活性）；他布妥（抑制性細(xì)胞外配體-門控離子通道活性）門離子通道活性);他布妥(抑制細(xì)胞外配體門離子通道活性);戊巴比妥(抑制細(xì)胞外配體門離子通道活性);戊巴比妥(抑制細(xì)胞外配體門離子通道活性);奧氮平(抑制細(xì)胞外配體門離子通道活性)通道活性）；氯巴占（抑制細(xì)胞外配體門控離子通道活性）；甲丙氨酯（抑制細(xì)胞外配體門控離子通道活性）；甲丙氨酯（抑制細(xì)胞外配體門控離子通道活性）；依佐匹克?。ㄒ种萍?xì)胞外配體門控離子通道活性)；右佐匹克?。ㄒ种萍?xì)胞外配體門控離子通道活性）；阿普唑侖（抑制細(xì)胞外配體門控離子通道活性）；司可巴比妥（抑制細(xì)胞外配體門控離子通道活性）；唑吡坦（抑制細(xì)胞外配體門控離子通道活性）； Metharbital（抑制細(xì)胞外配體門控離子通道活性）；Metharbital（抑制細(xì)胞外配體門控離子通道活性）；Picrotoxin（抑制細(xì)胞外配體門控離子通道活性）；Methohexital（抑制細(xì)胞外配體門控離子通道活性）；氯氮卓（ Inhibitory extracellular ligand-gated ion channel activity);Amoxapine（抑制細(xì)胞外配體門控離子通道活性）;Amoxapine（抑制細(xì)胞外配體門控離子通道活性）;Adinazolam（抑制細(xì)胞外配體門控離子通道活性）;Thioopental（抑制細(xì)胞外配體門控離子通道活性）配體門控離子通道活性）；氯拉西泮（抑制細(xì)胞外配體門控離子通道活性）；阿坎酸（抑制細(xì)胞外配體門控離子通道活性）；咪達(dá)唑侖（抑制細(xì)胞外配體門控離子通道活性）；氟拉西泮（抑制細(xì)胞外配體-門控離子通道活性） gated ion channel activity);Isoflurane (Inhibitory extracellular ligand-gated ion channel activity);Isoflurane (Inhibitory extracellular ligand-gated ion channel activity);撲米酮(Inhibitory extracellular ligand-gated ion channel activity);撲米酮(Inhibitory extracellular ligand-gated ion activity)通道活性);哈拉西泮(抑制細(xì)胞外配體門控離子通道活性);哈拉西泮(抑制細(xì)胞外配體門控離子通道活性);異丙酚(抑制細(xì)胞外配體門控離子通道活性);地西泮(抑制細(xì)胞外配體門控離子通道活性)；地西泮（抑制細(xì)胞外配體門控離子通道活性）；Progabide（抑制細(xì)胞外配體門控離子通道活性）；奧沙西泮（抑制細(xì)胞外配體門控離子通道活性）；奧沙西泮（抑制細(xì)胞外配體門控離子通道活性）；甲基苯巴比妥（抑制細(xì)胞外配體門控離子通道活性）;三唑侖（抑制細(xì)胞外配體門控離子通道活性）;三唑侖（抑制細(xì)胞外配體門控離子通道活性）;乙醇（抑制細(xì)胞外配體門控離子通道活性）;扎來普隆（ Inhibitory extracellular ligand-gated ion channel activity);Methoxyflurane（抑制細(xì)胞外配體門控離子通道活性）;Methoxyflurane（抑制細(xì)胞外配體門控離子通道活性）;Ergoloid mesylate（抑制細(xì)胞外配體門控離子通道活性）;Clonazepam（抑制細(xì)胞外配體門控離子通道活性）；Methyprylon（抑制性細(xì)胞外配體門控離子通道活性）；Methyprylon（抑制性細(xì)胞外配體門控離子通道活性）；Thiamylal（抑制性細(xì)胞外配體門控離子通道活性）；Halothane（抑制性細(xì)胞外配體-門控離子通道活性）；氟烷（抑制性細(xì)胞外配體門控離子通道活性）；苯巴比妥（抑制性細(xì)胞外配體門控離子通道活性）；地氟烷（抑制性細(xì)胞外配體門控離子通道活性）；佐匹克?。ㄒ种菩约?xì)胞外配體門控離子通道活性）離子通道活性）;氟馬西尼（抑制細(xì)胞外配體門控離子通道活性）;氟馬西尼（抑制細(xì)胞外配體門控離子通道活性）;艾司唑侖（抑制細(xì)胞外配體門控離子通道活性）;艾司唑侖（抑制細(xì)胞外配體門控離子通道活性);七氟醚(抑制細(xì)胞外配體門控離子通道活性);七氟醚(抑制細(xì)胞外配體門控離子通道活性);二氫奎尼丁巴比妥酸鹽(抑制細(xì)胞外配體門控離子通道活性);奎尼丁巴比妥酸鹽(抑制細(xì)胞外配體門控離子通道Aprobarbital（抑制細(xì)胞外配體門控離子通道活性）；Aprobarbital（抑制細(xì)胞外配體門控離子通道活性）；Butethal（抑制細(xì)胞外配體門控離子通道活性）；Heptabarbital（抑制細(xì)胞外配體門控離子通道活性） ;己巴比妥（抑制細(xì)胞外配體門控離子通道活性）；銀杏葉（抑制細(xì)胞外配體門控離子通道活性）；谷氨酰胺（抑制細(xì)胞外配體門控離子通道活性）；谷氨酰胺（抑制細(xì)胞外配體門控離子通道活性）；巴比妥（抑制細(xì)胞外配體門控離子通道活性）；巴比妥酸衍生物（抑制細(xì)胞外配體門控離子通道活性）；溴西泮（抑制細(xì)胞外配體門控離子通道活性）；克洛硫西泮（抑制細(xì)胞外配體門控離子通道活性）；氟地西泮（抑制細(xì)胞外配體門控離子通道活性）；酮唑侖（抑制細(xì)胞外配體門控離子通道活性）；普拉西泮（抑制細(xì)胞外配體門控離子通道活性）；普拉西泮（抑制細(xì)胞外配體門控離子通道活性）；喹西泮（抑制細(xì)胞外配體門控離子通道活性）；Quazepam（抑制細(xì)胞外配體門控離子通道活性）；Cinolazepam（抑制細(xì)胞外配體門控離子通道活性）；Nitrazepam（抑制細(xì)胞外配體門控離子通道活性）；Prasterone（抑制細(xì)胞外配體門控離子通道活性）配體門控離子通道活性）；加奈索酮（抑制細(xì)胞外配體門控離子通道活性）；硫秋水仙苷（抑制細(xì)胞外配體門控離子通道活性）