【佳學(xué)基因檢測(cè)】神經(jīng)外科學(xué)中如何充實(shí)CPT2突變檢測(cè)內(nèi)容

基因檢測(cè)的序列名稱：

CPT2

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

1376

人體基因序列數(shù)據(jù)庫中國(guó)際交流名稱全稱

carnitine palmitoyltransferase 2

中國(guó)數(shù)據(jù)庫中基因全稱：

肉堿棕櫚酰轉(zhuǎn)移酶2

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]

基因突變所影響的基因信息

該基因編碼的蛋白質(zhì)是一種核蛋白，被轉(zhuǎn)運(yùn)到線粒體內(nèi)膜。編碼的蛋白質(zhì)與肉堿棕櫚酰轉(zhuǎn)移酶I一起氧化線粒體中的長(zhǎng)鏈脂肪酸。該基因的缺陷與線粒體長(zhǎng)鏈脂肪酸（LCFA）氧化疾病有關(guān)。[由RefSeq提供，2008年7月]

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

CPT1, CPTASE, IIAE4

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1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：53662101；結(jié)束位置坐標(biāo)為：53679869。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：53196429；結(jié)束位置坐標(biāo)為：53214197。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

Enzymes/ENZYME proteins/Transferases

基因解碼對(duì)該基因的功能分類：中文版

酶/酶蛋白/轉(zhuǎn)移酶

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）：

MitochondriaNucleoli;Nucleoplasm

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）：

線粒體核仁；核質(zhì)

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

Antenatal intracerebral hemorrhage; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL; Decreased plasma free carnitine; Decreased plasma total carnitine; Increased serum long-chain fatty acids; Lipid accumulation in skeletal muscle; Long-chain dicarboxylic aciduria; Respiratory arrest; Abnormality of nervous system morphology; Basal ganglia cysts; Brain Diseases, Metabolic; Hepatic calcification; Intracerebral periventricular calcifications; Tapered toe; Macrovesicular steatosis; Long toes; Double ureter; Elevated total bilirubin; Nonketotic hypoglycemia; Hypoketotic hypoglycemia; Myoglobinuria; Muscular stiffness; Enlarged kidney; Rhabdomyolysis; Polycystic Kidney - body part; Narrow palate; Polycystic Kidney Diseases; Hypoplastic toenails; Overfolded helix; Tapering fingers (finding); Foot Deformities; Hyperammonemia; Flexion contracture - elbow; Respiratory distress; Apnea; Sloping forehead; Wide spaced nipples; Bulbous nasal tip; Bulbous nose; Polymicrogyria; Potato nose; Multicystic Dysplastic Kidney; Comatose; Muscle Cramp; Myalgia; Posteriorly rotated ear; Neonatal Hypotonia; Bulging forehead; Prominent forehead; Hydronephrosis; Liver Failure; Kidney Failure; Renal failure in adulthood; Lethargy; Respiratory Failure; Cardiac conduction abnormalities; EKG abnormalities; Electrocardiogram change; Elevated hepatic transaminases; Hepatic enzyme increased; Liver enzymes abnormal; Liver function test increased; Liver function tests abnormal finding; Subclinical abnormal liver function tests; Transaminases increased; Agenesis of corpus callosum; Conduction disorder of the heart; Cardiomyopathy, Dilated; Electrocardiogram abnormal; Renal Insufficiency; Liver Dysfunction; Cardiac Arrhythmia; Nausea and vomiting; High forehead; Tall forehead; Myopathy; Cardiomyopathies; Vomiting; Cardiomegaly; Creatine phosphokinase serum increased; Elevated creatine kinase; Dilated ventricles (finding); Respiratory function loss; Respiratory Insufficiency; Feeding difficulties in infancy; Low set ears; Muscle Weakness; Fatigue; Byzanthine arch palate; Lens Opacities; Infantile onset; Cataract; Hepatomegaly; Small head; Epilepsy; Muscle hypotonia; Seizures; 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）：

產(chǎn)前腦出血；肉堿棕櫚酰轉(zhuǎn)移酶 II 缺乏癥嬰兒期；肉堿棕櫚酰轉(zhuǎn)移酶 II 缺乏癥遲發(fā)性；肉堿棕櫚酰轉(zhuǎn)移酶 II 缺乏癥致死性新生兒；減少血漿游離肉堿;血漿總?cè)舛緣A減少；增加血清長(zhǎng)鏈脂肪酸；骨骼肌中的脂質(zhì)積累；長(zhǎng)鏈二羧酸尿癥；呼吸驟停;神經(jīng)系統(tǒng)形態(tài)異常；基底神經(jīng)節(jié)囊腫；腦部疾病代謝；肝鈣化；腦內(nèi)腦室周圍鈣化;錐形鞋頭；大泡性脂肪變性；長(zhǎng)腳趾；雙輸尿管；總膽紅素升高；非酮癥性低血糖；低酮性低血糖癥;肌紅蛋白尿；肌肉僵硬；腎腫大；橫紋肌溶解癥；多囊腎 - 身體部位；狹窄的上顎；多囊腎??；發(fā)育不全的腳趾甲；折疊螺旋；逐漸變細(xì)的手指（發(fā)現(xiàn)）；足部畸形；高氨血癥;屈曲攣縮——肘部；呼吸窘迫；呼吸暫停；前額傾斜；寬間距乳頭；球狀鼻尖；球鼻；多小腦回；土豆鼻子；多囊性發(fā)育不良腎；昏迷；肌肉痙攣;肌痛;向后旋轉(zhuǎn)的耳朵；新生兒肌張力減退；額頭隆起；突出的額頭；腎積水;肝功能衰竭；腎功能衰竭;成年期腎功能衰竭；昏睡;呼吸衰竭;心臟傳導(dǎo)異常；心電圖異常；心電圖改變；肝轉(zhuǎn)氨酶升高；肝酶升高；肝酶異常；肝功能檢查增加；肝功能檢查異常；亞臨床異常肝功能檢查；轉(zhuǎn)氨酶升高；胼胝體發(fā)育不全；心臟傳導(dǎo)障礙；心肌病擴(kuò)張型；心電圖異常；腎功能不全;肝功能障礙；心律失常;惡心和嘔吐;高額頭;額頭高；肌病;心肌病;嘔吐；心臟肥大；血清肌酸磷酸激酶升高；肌酸激酶升高；擴(kuò)張的心室（發(fā)現(xiàn)）；呼吸功能喪失；呼吸功能不全；嬰兒喂養(yǎng)困難；低位耳朵；肌肉無力;疲勞;拜占庭拱形上顎；晶狀體混濁；嬰兒期發(fā)病；白內(nèi)障;肝腫大；小頭;癲癇;肌肉張力減退；癲癇發(fā)作；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)庫的更新內(nèi)容

以該基因做靶點(diǎn)的藥物（國(guó)際版）：

L-Carnitine (Carnitine o-palmitoyltransferase activity);Perhexiline (Carnitine o-palmitoyltransferase 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）：

L-Carnitine（肉堿鄰棕櫚酰轉(zhuǎn)移酶活性）；Perhexiline（肉堿鄰棕櫚酰轉(zhuǎn)移酶活性）