【广东会GDH基因检测】医学博士ANK1基因检测的知识结构准备
基因检测的序列名称:
ANK1
人体基因序列变化与疾病表征数据库中的基因代码:
286
人体基因序列数据库中国际交流名称全称
ankyrin 1
中国数据库中基因全称:锚蛋白1基因检测报告英文版基因简介
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]
基因突变所影响的基因信息
锚蛋白是一种蛋白质家族,其将整合的膜蛋白连接至潜在的血影蛋白-肌动蛋白细胞骨架,并在诸如细胞运动性,活化,增殖,接触和维持特定膜结构域的活动中起关键作用。对各种靶蛋白具有不同亲和力的锚蛋白的多种同工型以组织特异性,发育调控的方式表达。大多数锚蛋白通常由三个结构域组成:包含多个锚蛋白重复序列的氨基末端结构域;具有高度保守的血影蛋白结合结构域的中央区域;以及保守度贼低且易于变化的羧基末端调节域。该家族的原型锚蛋白1首先在红细胞中发现,但此后也在大脑和肌肉中发现。大约有一半的遗传性球囊增多症患者与红细胞锚蛋ು
国际国内该碱基因序列的其他英语文字母简称:
ANK, SPH1, SPH2
基因解码对该基因序列在细胞核中的染色体所给予的编号:
该基因序列位于人类第8号染色体上。
基因解码对基因序列的正确定位
该基因序列在GRCh37版本中的起始位置坐标为:41510744;结束位置坐标为:41754280。该基因序列在GRCh38版本中的起始位置坐标为:41653225;结束位置坐标为:41896762。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。
广东会GDH基因解码对该基因的功能分类:国际版
Transporters/Accessory Factors Involved in Transport
基因解码对该基因的功能分类:中文版
转运蛋白/参与转运的辅助因素
结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所(国际版):
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结构与功能基因解码所揭示的该基因发挥作用的细胞内位置(中文版):
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该基因序列变化后增加的疾病风险(国际版):
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
如果该基因突变后,风险可能增加的疾病类型(中文版):
球形红细胞增多症1 型(紊乱);贫血遗传性球形红细胞溶血;球形红细胞增多症;遗传性球形红细胞增多症;下丘脑 - 垂体轴异常;胆红素水平升高(发现);胆石症;网状细胞增多症;骨骼疾病发育;耳前酒窝;耳前窦;先天性耳前瘘;无精子症;畸形耳廓;贫血溶血;性腺功能减退症孤立性低促性腺激素;低促性腺激素性腺机能减退症;黄疸;先天性阴茎发育不全;脾肿大;拜占庭拱形上颚;隐睾;发育不全的下颌骨髁;下颌发育不全;小颌畸形;眼球震颤;小头;身材矮小;认知延迟;整体发育迟缓;智力和运动迟缓;智力迟钝;智力低下;智力低下;精神缺陷;学习成绩差;智力残疾
GWAS基因检测所建立的与该基因的疾病关联(国际版):
Diabetes Mellitus, Type 2;Hemoglobin A, Glycosylated;Asthma
GWAS基因检测所解码的该基因突变会增加风险的疾病种类(中文版):
糖尿病,2 型;血红蛋白 A,糖基化;哮喘
以该基因做靶点的药物(国际版):
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针对该基因所产生的突变,可能有正确效果的药物(中文版):
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