【佳學(xué)基因檢測】疑難病例分析中關(guān)于ADK的必備知識(shí)

基因檢測的序列名稱：

ADK

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

132

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

adenosine kinase

中國數(shù)據(jù)庫中基因全稱：

腺苷激酶

基因檢測報(bào)告英文版基因簡介

This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

基因突變所影響的基因信息

該基因是催化γ-磷酸從ATP向腺苷轉(zhuǎn)移的酶，從而充當(dāng)細(xì)胞外腺苷和細(xì)胞內(nèi)腺嘌呤核苷酸濃度的調(diào)節(jié)劑。腺苷對(duì)心血管，神經(jīng)，呼吸和免疫系統(tǒng)具有廣泛的作用，該酶的抑制劑在增加血管內(nèi)腺苷濃度并起消炎劑的作用上可能起重要的藥理作用。已發(fā)現(xiàn)該基因的編碼不同同工型的多個(gè)轉(zhuǎn)錄物變體。[由RefSeq提供，2011年1月]

國際國內(nèi)該堿基因序列的其他英語文字母簡稱：

AK

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10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：75910943；結(jié)束位置坐標(biāo)為：76469061。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：74151185；結(jié)束位置坐標(biāo)為：74709303。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;Nucleoplasm(Supported)

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；核質(zhì)

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：

HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY; Portal fibrosis; Portal fibrosis shown on biopsy; Narrow foot; Hepatic methionine adenosyltransferase deficiency; Increased bilirubin level (finding); Decreased liver function; Liver dysfunction, mild; Hypoxia; Poor speech; Problems speaking; Steatohepatitis; 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; Cholestasis; Supratentorial atrophy; Liver Dysfunction; Degenerative brain disorder; Delayed speech and language development; Language Delay; Speech Delay; Speech impairment; Neurogenic Muscular Atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Skeletal muscle atrophy; muscle degeneration; Progressive disorder; Big calvaria; Increased head circumference; Increased size of cranium; Increased size of skull; Frontal bossing; Cerebral atrophy; Infantile onset; Orbital separation excessive; Failure to gain weight; Pediatric failure to thrive; Epilepsy; Muscle hypotonia; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Intellectual Disability; Schizophrenia; 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）：

腺苷激酶缺乏引起的高甲硫氨酸血癥；門脈纖維化；活檢顯示門靜脈纖維化；窄腳；肝甲硫氨酸腺苷轉(zhuǎn)移酶缺乏癥；膽紅素水平升高（發(fā)現(xiàn)）；肝功能下降；肝功能異常輕度；缺氧；口齒不清；說話有問題；脂肪性肝炎；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；膽汁淤積；幕上萎縮；肝功能障礙；退化性腦病；言語和語言發(fā)育遲緩；語言延遲；語音延遲；言語障礙；神經(jīng)源性肌肉萎縮癥；神經(jīng)源性肌肉萎縮尤其是下肢；骨骼肌萎縮；肌肉退化;進(jìn)行性疾?。淮箫B骨;頭圍增加；顱骨體積增大；顱骨尺寸增大；正面凸起；腦萎縮；嬰兒期發(fā)?。卉壍婪蛛x過度；未能增加體重；兒科發(fā)育不良；癲癇;肌肉張力減退；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；智力殘疾;精神分裂癥;常染色體隱性易感性

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

Tooth Eruption

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）：

牙齒萌出

以該基因做靶點(diǎn)的藥物（國際版）：

Adenosine monophosphate (Poly(a) rna binding);Ribavirin (Poly(a) rna binding);7-(5-DEOXY-BETA-D-RIBOFURANOSYL)-5-IODO-7H-PYRROLO[2,3-D]PYRIMIDIN-4-AMINE (Poly(a) rna binding);5-[4-(DIMETHYLAMINO)PHENYL]-6-[(6-MORPHOLIN-4-YLPYRIDIN-3-YL)ETHYNYL]PYRIMIDIN-4-AMINE (Poly(a) rna 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）：

一磷酸腺苷（Poly(a) rna 結(jié)合）；利巴韋林（Poly(a) rna 結(jié)合）；7-(5-DEOXY-BETA-D-RIBOFURANOSYL)-5-IODO-7H-PYRROLO[2,3-D]Pyrimidin -4-胺（Poly(a) rna 結(jié)合）；5-[4-(DIMETHYLAMINO)PHENYL]-6-[(6-MORPHOLIN-4-YLPYRIDIN-3-YL)ETHYNYL]Pyrimidin-4-AMINE (Poly( a) 核糖核酸結(jié)合)