【佳學(xué)基因檢測(cè)】SLC25A4的雙生子遺傳學(xué)分析結(jié)果簡(jiǎn)介
基因檢測(cè)的序列名稱:
SLC25A4
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:
291
人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱
solute carrier family 25 member 4
中國(guó)數(shù)據(jù)庫(kù)中基因全稱:溶質(zhì)載體家族25個(gè)成員4基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介
This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]
基因突變所影響的基因信息
該基因是溶質(zhì)載體蛋白基因的線粒體載體亞家族的成員。該基因的產(chǎn)物起門控孔的作用,該孔將ADP從細(xì)胞質(zhì)轉(zhuǎn)移到線粒體基質(zhì)中,將ATP從線粒體基質(zhì)轉(zhuǎn)移到細(xì)胞質(zhì)中。該蛋白質(zhì)形成嵌入線粒體內(nèi)膜的同型二聚體。該基因的突變已顯示導(dǎo)致常染色體顯性遺傳進(jìn)行性外部眼肌麻痹和家族性肥厚性心肌病。[由RefSeq提供,2013年6月]
國(guó)際國(guó)內(nèi)該堿基因序列的其他英語(yǔ)文字母簡(jiǎn)稱:
AAC1, ANT, ANT 1, ANT1, MTDPS12, MTDPS12A, PEO2, PEO3, PEOA2, T1
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:186064417;結(jié)束位置坐標(biāo)為:186071538。該基因序列在GRCh38版本中的起始位置坐標(biāo)為:185143263;結(jié)束位置坐標(biāo)為:185150384。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/Electrochemical Potential-driven transporters
基因解碼對(duì)該基因的功能分類:中文版
轉(zhuǎn)運(yùn)蛋白/電化學(xué)電位驅(qū)動(dòng)轉(zhuǎn)運(yùn)蛋白
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):
Mitochondria(Enhanced)
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):
線粒體
該基因序列變化后增加的疾病風(fēng)險(xiǎn)(國(guó)際版):
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2; Cataract and cardiomyopathy; Subsarcolemmal accumulations of abnormally shaped mitochondria; Multiple mitochondrial DNA (mtDNA) deletions; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1; Cardiomyopathy, Familial Hypertrophic, 1 (disorder); Decreased activity of cytochrome C oxidase in muscle tissue; Diabetic Cardiomyopathies; EMG: myopathic abnormalities; Chronic progressive external ophthalmoplegia; Ragged-red fibers; Impaired exercise tolerance; Generalized muscle weakness; Bell Palsy; Facial muscle weakness of muscles innervated by CN VII; Myalgia; Facial Paresis; Adult onset; Slow progression; Hypertrophic Cardiomyopathy; Lactic acidemia; Acidosis, Lactic; Myopathy; Myopia; Progressive disorder; Lens Opacities; Blepharoptosis; Cataract; Strabismus; Nystagmus; Bipolar Disorder; Liver Cirrhosis, Experimental; Autosomal recessive predisposition
如果該基因突變后,風(fēng)險(xiǎn)可能增加的疾病類型(中文版):
伴有線粒體 DNA 缺失的進(jìn)行性外眼肌麻痹常染色體顯性遺傳2型;白內(nèi)障和心肌??;異常形狀的線粒體在肌膜下堆積;多個(gè)線粒體 DNA (mtDNA) 缺失;伴有線粒體 DNA 缺失的進(jìn)行性外眼肌麻痹常染色體顯性遺傳2型;心肌病家族性肥厚性1(紊亂);肌肉組織中細(xì)胞色素 C 氧化酶的活性降低;糖尿病性心肌??;肌電圖:肌病異常;慢性進(jìn)行性外眼肌麻痹;參差不齊的紅色纖維;運(yùn)動(dòng)耐力受損;全身性肌肉無(wú)力;貝爾麻痹; CN VII 支配的肌肉的面部肌肉無(wú)力;肌痛;面部麻痹;成人發(fā)病;進(jìn)展緩慢;肥厚性心肌病;乳酸血癥;酸中毒乳酸;肌病;近視;進(jìn)行性疾?。痪铙w混濁;上瞼下垂;白內(nèi)障;斜視;眼球震顫;躁郁癥;肝硬化實(shí)驗(yàn)性的;常染色體隱性易感性
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):
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,獲得及明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
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):
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,獲得及明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
以該基因做靶點(diǎn)的藥物(國(guó)際版):
Adenosine triphosphate (Adenine transmembrane transporter activity);Clodronate (Adenine transmembrane transporter activity);[3-(Dodecanoylamino)Propyl](Hydroxy)Dimethylammonium (Adenine transmembrane transporter activity);Carboxyatractyloside (Adenine transmembrane transporter activity);Cardiolipin (Adenine transmembrane transporter activity);Di-Stearoyl-3-Sn-Phosphatidylcholine (Adenine transmembrane transporter 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):
三磷酸腺苷(腺嘌呤跨膜轉(zhuǎn)運(yùn)蛋白活性);氯膦酸鹽(腺嘌呤跨膜轉(zhuǎn)運(yùn)蛋白活性);[3-(十二烷酰氨基)丙基](羥基)二甲基銨(腺嘌呤跨膜轉(zhuǎn)運(yùn)蛋白活性);羧基蒼術(shù)苷(腺嘌呤跨膜轉(zhuǎn)運(yùn)蛋白活性);心磷脂(腺嘌呤跨膜轉(zhuǎn)運(yùn)蛋白活性) );Di-Stearoyl-3-Sn-Phosphatidylcholine(腺嘌呤跨膜轉(zhuǎn)運(yùn)蛋白活性)
(責(zé)任編輯:佳學(xué)基因)