【佳學(xué)基因檢測(cè)】GABRA2疾病 風(fēng)險(xiǎn)評(píng)估找到病因后應(yīng)該用什么靶向藥物？

基因檢測(cè)的序列名稱：

GABRA2

人體基因序列變化與疾病表征數(shù)據(jù)庫(kù)中的基因代碼：

2555

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱

gamma-aminobutyric acid type A receptor alpha2 subunit

中國(guó)數(shù)據(jù)庫(kù)中基因全稱：

γ-氨基丁酸A型受體alpha2亞基

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

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. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

基因突變所影響的基因信息

GABA是哺乳動(dòng)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(guò)與GABA-A受體結(jié)合的試劑（例如苯二氮雜）來(lái)調(diào)節(jié)。已經(jīng)鑒定出GABA-A受體的至少16個(gè)不同的亞基。已經(jīng)發(fā)現(xiàn)該基因的編碼不同同工型的剪接的轉(zhuǎn)錄變體。[由RefSeq提供，2013年11月]

國(guó)際國(guó)內(nèi)該堿基基因序列的其他英語(yǔ)文字母簡(jiǎn)稱：

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

基因解碼對(duì)該基因序列在細(xì)胞核中的染色體所給予的編號(hào)：

該基因序列位于人類第4號(hào)染色體上。

基因解碼對(duì)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：46246470；結(jié)束位置坐標(biāo)為：46392056。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：46243548；結(jié)束位置坐標(biāo)為：46390039。正確的基因信息定位是基因檢測(cè)和對(duì)檢測(cè)結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對(duì)該基因的功能分類：國(guó)際版

Transporters/Transporter channels and pores

基因解碼對(duì)該基因的功能分類：中文版

轉(zhuǎn)運(yùn)體/轉(zhuǎn)運(yùn)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(chǎng)所（國(guó)際版）：

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）：

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國(guó)際版）：

Cannabis use; Cannabis Dependence; Heroin Dependence; Anxiety Disorders; Cocaine Dependence; Cocaine-Related Disorders; Autistic Disorder; Alcoholic Intoxication, Chronic

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：

大麻使用；大麻依賴；海洛因依賴；焦慮癥;可卡因依賴；可卡因相關(guān)疾??；自閉癥；酒精中毒慢性

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

GWAS基因檢測(cè)所解碼的該基因突變會(huì)增加風(fēng)險(xiǎn)的疾病種類（中文版）：

以該基因做靶點(diǎn)的藥物（國(guó)際版）：

Temazepam (Inhibitory extracellular ligand-gated ion channel activity);Butalbital (Inhibitory extracellular ligand-gated ion channel activity);Talbutal (Inhibitory extracellular ligand-gated ion channel activity);Pentobarbital (Inhibitory extracellular ligand-gated ion channel activity);Meprobamate (Inhibitory extracellular ligand-gated ion channel activity);Eszopiclone (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);Adinazolam (Inhibitory extracellular ligand-gated ion channel activity);Thiopental (Inhibitory extracellular ligand-gated ion channel activity);Midazolam (Inhibitory extracellular ligand-gated ion channel activity);Flurazepam (Inhibitory extracellular ligand-gated ion channel activity);Primidone (Inhibitory extracellular ligand-gated ion channel activity);Halazepam (Inhibitory extracellular ligand-gated ion channel activity);Diazepam (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);Ethanol (Inhibitory extracellular ligand-gated ion channel activity);Zopiclone (Inhibitory extracellular ligand-gated ion channel activity);Estazolam (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);Barbital (Inhibitory extracellular ligand-gated ion channel activity);Barbituric acid derivative (Inhibitory extracellular ligand-gated ion channel activity);Flunitrazepam (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);Prazepam (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);Pagoclone (Inhibitory extracellular ligand-gated ion channel activity);Ganaxolone (Inhibitory extracellular ligand-gated ion channel activity)

針對(duì)該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

替馬西泮（抑制細(xì)胞外配體門控離子通道活性）；布他比妥（抑制細(xì)胞外配體門控離子通道活性）；他布妥（抑制細(xì)胞外配體門控離子通道活性）；戊巴比妥（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）；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）；美沙比妥（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）；阿地那唑侖（抑制細(xì)胞外配體門控離子通道活性）；硫噴妥鈉（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）門離子通道活性）；撲米酮（抑制細(xì)胞外配體門離子通道活性）；哈拉西泮（抑制細(xì)胞外配體門離子通道活性）；地西泮（抑制細(xì)胞外配體門離子通道活性）；奧沙西泮（抑制細(xì)胞外配體門離子通道活性）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）；乙醇（抑制細(xì)胞外配體門控離子通道活性）；佐匹克?。ㄒ种萍?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）;奎尼丁巴比妥（抑制細(xì)胞外配體門控離子通道活性）;阿莫巴比妥（抑制細(xì)胞外配體門控離子通道活性）;阿普巴比妥（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）；庚巴比妥（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）；巴比妥（抑制細(xì)胞外配體門控離子通道活性）；巴比妥酸酸衍生物（抑制細(xì)胞外配體門控離子通道活性）；氟硝西泮（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）；氯噻西泮（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);普拉西泮(抑制細(xì)胞外配體門控離子通道活性);夸西泮(抑制細(xì)胞外配體門控離子通道活性);西諾西泮(抑制細(xì)胞外配體門控離子通道活性);硝西泮(抑制細(xì)胞外配體門控離子通道活性)細(xì)胞外配體門控離子通道活性）；帕戈克隆（抑制細(xì)胞外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）

GABRA2疾病風(fēng)險(xiǎn)評(píng)估找到病因后應(yīng)該用什么靶向藥物？

(責(zé)任編輯：佳學(xué)基因)

【佳學(xué)基因檢測(cè)】GABRA2疾病風(fēng)險(xiǎn)評(píng)估找到病因后應(yīng)該用什么靶向藥物？

【佳學(xué)基因檢測(cè)】GABRA2疾病風(fēng)險(xiǎn)評(píng)估找到病因后應(yīng)該用什么靶向藥物？