【佳學(xué)基因檢測】GCK基因評(píng)估分析有突變會(huì)得什么病？

基因檢測的序列名稱：

GCK

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2645

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

glucokinase

中國數(shù)據(jù)庫中基因全稱：

葡萄糖激酶

基因檢測報(bào)告英文版基因簡介

This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]

基因突變所影響的基因信息

該基因編碼蛋白質(zhì)的己糖激酶家族成員。己糖激酶使葡萄糖磷酸化以產(chǎn)生6-磷酸葡萄糖，這是大多數(shù)葡萄糖代謝途徑中的先進(jìn)步。與其他形式的己糖激酶不同，該酶不受其產(chǎn)物6-磷酸葡萄糖的抑制，但在葡萄糖豐富的情況下仍保持活性。使用多個(gè)啟動(dòng)子和該基因的可變剪接導(dǎo)致在胰腺和肝臟中表現(xiàn)出組織特異性表達(dá)的不同蛋白同工型。在胰腺中，該酶在葡萄糖刺激的胰島素分泌中起作用，而在肝臟中，該酶在葡萄糖攝取和向糖原的轉(zhuǎn)化中很重要。該基因中改變酶活性的突變與多種類型的糖尿病和高胰島素低血糖癥有關(guān)。[由RefSeq提供，2017年8月]

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2

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7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：44183870；結(jié)束位置坐標(biāo)為：44229022。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：44143213；結(jié)束位置坐標(biāo)為：44189439。正確的基因信息定位是基因檢測和對(duì)檢測結(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)揮作用的場所（國際版）：

Cytosol;Golgi apparatus

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）：

胞質(zhì)溶膠；高爾基體

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：

Diabetes mellitus autosomal dominant type II (disorder); Hyperinsulinemic hypoglycemia, familial, 3; Congenital Hyperinsulinism; Beta-cell dysfunction; DIABETES MELLITUS, PERMANENT NEONATAL; High urine albumin levels; Microalbuminuria; Contracture of lower limb; Limb contractures; Neonatal insulin-dependent diabetes mellitus; Reduced pancreatic beta cells; Hypovolemia; Ketonuria; Bilateral ptosis; Hypoglycaemic seizure; Hypoglycemic coma; Ketoacidosis; Maturity onset diabetes mellitus in young; Prominent metopic ridge; Hyperinsulinaemic hypoglycaemia; Abnormality of the immune system; Congenital heart disease; Hypsarrhythmia; Glycosuria; Congenital ear anomaly NOS (disorder); Hyperglycemia; Radially deviated fingers; Generalized myoclonic seizures; Dehydration; Epilepsies, Myoclonic; Axial hypotonia; Myoclonic Epilepsies, Progressive; Downturned corners of mouth; Neuropathy; Arthrogryposis; Tonic - clonic seizures; Retinal Diseases; Congenital Heart Defects; Congenital clinodactyly; Curvature of digit; Low Birth Weights; Small for gestational age (disorder); Insulin Resistance; Diabetes Mellitus; Weight decreased; Diabetes Mellitus, Experimental; Short nose; Small nose; Peripheral Neuropathy; Long philtrum; Motor delay; No development of motor milestones; Diabetes Mellitus, Non-Insulin-Dependent; Infant, Small for Gestational Age; Intrauterine retardation; Muscle Weakness; Fetal Growth Retardation; Anteverted nostril; Blepharoptosis; Failure to gain weight; Pediatric failure to thrive; Epilepsy; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Liver Cirrhosis, Experimental

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

糖尿病常染色體顯性遺傳 II 型（疾?。桓咭葝u素血癥性低血糖家族性2型；先天性高胰島素血癥； β細(xì)胞功能障礙；糖尿病有效、悠久、長期、很久性新生兒；高尿白蛋白水平；微量白蛋白尿；下肢攣縮；肢體攣縮；新生兒胰島素依賴型糖尿??；胰腺 β 細(xì)胞減少；低血容量;酮尿癥；雙側(cè)上瞼下垂；低血糖發(fā)作;低血糖昏迷；酮癥酸中毒；年青人發(fā)病的糖尿病；突出的主題脊；高胰島素血癥低血糖癥;免疫系統(tǒng)異常；先天性心臟病；節(jié)律失常;糖尿;先天性耳畸形 NOS（障礙）；高血糖；徑向偏離的手指;全身性肌陣攣發(fā)作；脫水；癲癇、肌陣攣；軸向肌張力減退；肌陣攣性癲癇進(jìn)行性；嘴角下垂；神經(jīng)??；關(guān)節(jié)攣縮癥；強(qiáng)直 - 陣攣發(fā)作;視網(wǎng)膜疾??；先天性心臟缺陷；先天性斜指；數(shù)字曲率；低出生體重；小于胎齡兒（疾?。?；胰島素抵抗;糖尿?。惑w重下降；糖尿病實(shí)驗(yàn)性的；鼻子短；小鼻子;周圍神經(jīng)病變；長人中；電機(jī)延遲；沒有運(yùn)動(dòng)里程碑的發(fā)展；糖尿病非胰島素依賴性；嬰兒小于胎齡兒；宮內(nèi)發(fā)育遲緩;肌肉無力;胎兒生長遲緩；鼻孔前傾；上瞼下垂；未能增加體重；兒科發(fā)育不良；癲癇;癲癇發(fā)作；認(rèn)知延遲；整體發(fā)育遲緩；智力和運(yùn)動(dòng)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;肝硬化實(shí)驗(yàn)性

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

Hemoglobin A, Glycosylated;Glucose;Metabolic Syndrome X;Blood Glucose;Glucose Tolerance Test;Glucose Transporter Type 2

GWAS基因檢測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）：

糖基化血紅蛋白 A；葡萄糖；代謝綜合征 X；血糖；葡萄糖耐量試驗(yàn)；2 型葡萄糖轉(zhuǎn)運(yùn)蛋白

以該基因做靶點(diǎn)的藥物（國際版）：

Beta-D-Glucose (Glucose binding);2-amino-N-(4-methyl-1,3-thiazol-2-yl)-5-[(4-methyl-4H-1,2,4-triazol-3-yl)sulfanyl]benzamide (Glucose binding);3-[(4-fluorophenyl)sulfanyl]-N-(4-methyl-1,3-thiazol-2-yl)-6-[(4-methyl-4H-1,2,4-triazol-3-yl)sulfanyl]pyridine-2-carboxamide (Glucose binding);2-(methylamino)-N-(4-methyl-1,3-thiazol-2-yl)-5-[(4-methyl-4H-1,2,4-triazol-3-yl)sulfanyl]benzamide (Glucose binding);2-AMINO-4-FLUORO-5-[(1-METHYL-1H-IMIDAZOL-2-YL)SULFANYL]-N-(1,3-THIAZOL-2-YL)BENZAMIDE (Glucose binding)

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）：

Beta-D-葡萄糖（葡萄糖結(jié)合）；2-氨基-N-(4-甲基-1,3-噻唑-2-基)-5-[(4-甲基-4H-1,2,4-三唑- 3-yl)sulfanyl]benzamide (葡萄糖結(jié)合);3-[(4-fluorophenyl)sulfanyl]-N-(4-methyl-1,3-thiazol-2-yl)-6-[(4-methyl-4H) -1,2,4-triazol-3-yl)sulfanyl]pyridine-2-carboxamide (Glucose binding);2-(methylamino)-N-(4-methyl-1,3-thiazol-2-yl)-5 -[(4-methyl-4H-1,2,4-triazol-3-yl)sulfanyl]benzamide（葡萄糖結(jié)合）；2-AMINO-4-FLUORO-5-[(1-METHYL-1H-IMIDAZOL-2 -YL)SULFANYL]-N-(1,3-THIAZOL-2-YL)BENZAMIDE（葡萄糖結(jié)合）