【佳學(xué)基因檢測(cè)】醫(yī)學(xué)博士ANK1基因檢測(cè)的知識(shí)結(jié)構(gòu)準(zhǔn)備

基因檢測(cè)的序列名稱(chēng)：

ANK1

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：

286

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱(chēng)全稱(chēng)

ankyrin 1

中國(guó)數(shù)據(jù)庫(kù)中基因全稱(chēng)：錨蛋白1基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]

基因突變所影響的基因信息

錨蛋白是一種蛋白質(zhì)家族，其將整合的膜蛋白連接至潛在的血影蛋白-肌動(dòng)蛋白細(xì)胞骨架，并在諸如細(xì)胞運(yùn)動(dòng)性，活化，增殖，接觸和維持特定膜結(jié)構(gòu)域的活動(dòng)中起關(guān)鍵作用。對(duì)各種靶蛋白具有不同親和力的錨蛋白的多種同工型以組織特異性，發(fā)育調(diào)控的方式表達(dá)。大多數(shù)錨蛋白通常由三個(gè)結(jié)構(gòu)域組成：包含多個(gè)錨蛋白重復(fù)序列??的氨基末端結(jié)構(gòu)域；具有高度保守的血影蛋白結(jié)合結(jié)構(gòu)域的中央?yún)^(qū)域；以及保守度賊低且易于變化的羧基末端調(diào)節(jié)域。該家族的原型錨蛋白1首先在紅細(xì)胞中發(fā)現(xiàn)，但此后也在大腦和肌肉中發(fā)現(xiàn)。大約有一半的遺傳性球囊增多癥患者與紅細(xì)胞錨蛋??

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(chēng)：

ANK, SPH1, SPH2

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(lèi)第8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：41510744；結(jié)束位置坐標(biāo)為：41754280。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：41653225；結(jié)束位置坐標(biāo)為：41896762。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(lèi)：國(guó)際版

Transporters/Accessory Factors Involved in Transport

基因解碼對(duì)該基因的功能分類(lèi)：中文版

轉(zhuǎn)運(yùn)蛋白/參與轉(zhuǎn)運(yùn)的輔助因素

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）：

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(lèi)基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容

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）：

SPHEROCYTOSIS, TYPE 1 (disorder); Anemia, hereditary spherocytic hemolytic; Spherocytosis; Hereditary spherocytosis; Abnormality of the hypothalamus-pituitary axis; Increased bilirubin level (finding); Cholelithiasis; Reticulocytosis; Bone Diseases, Developmental; Preauricular dimple; Preauricular sinus; Preauricular Fistulae, Congenital; Azoospermia; Malformed pinnae; Anemia, Hemolytic; Hypogonadism, Isolated Hypogonadotropic; Hypogonadotropic hypogonadism; Icterus; Congenital hypoplasia of penis; Splenomegaly; Byzanthine arch palate; Cryptorchidism; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Nystagmus; Small head; Short stature; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability

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

球形紅細(xì)胞增多癥1 型（紊亂）；貧血遺傳性球形紅細(xì)胞溶血；球形紅細(xì)胞增多癥；遺傳性球形紅細(xì)胞增多癥；下丘腦 - 垂體軸異常;膽紅素水平升高（發(fā)現(xiàn)）；膽石癥;網(wǎng)狀細(xì)胞增多癥；骨骼疾病發(fā)育；耳前酒窩;耳前竇;先天性耳前瘺；無(wú)精子癥；畸形耳廓；貧血溶血；性腺功能減退癥孤立性低促性腺激素；低促性腺激素性腺機(jī)能減退癥;黃疸;先天性陰莖發(fā)育不全；脾腫大;拜占庭拱形上顎；隱睪;發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；眼球震顫；小頭;身材矮??；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(jī)差；智力殘疾

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）：

Diabetes Mellitus, Type 2;Hemoglobin A, Glycosylated;Asthma

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(lèi)（中文版）：

糖尿病，2 型；血紅蛋白 A，糖基化；哮喘

以該基因做靶點(diǎn)的藥物（國(guó)際版）：

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）：

醫(yī)學(xué)博士ANK1基因檢測(cè)的知識(shí)結(jié)構(gòu)準(zhǔn)備 (責(zé)任編輯：佳學(xué)基因)