【佳学基因检测】脑外科博士研究生开题答辩中关于AGA的准备题纲
基因检测的序列名称:
AGA
人体基因序列变化与疾病表征数据库中的基因代码:
175
人体基因序列数据库中国际交流名称全称
aspartylglucosaminidase
中国数据库中基因全称:
天冬氨酰氨基葡糖苷酶
基因检测报告英文版基因简介
This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]
基因突变所影响的基因信息
该基因编码蛋白质的N末端亲核试剂(Ntn)水解酶家族的成员。编码的前原蛋白经过蛋白水解处理以生成包含成熟酶的α和β链。该酶参与糖蛋白的N-连接寡糖的分解代谢。它从N-乙酰氨基葡萄糖中裂解天冬酰胺,这是糖蛋白溶酶体降解的贼终步骤之一。该基因的突变与溶酶体贮积病天冬氨酰糖尿症有关,后者导致进行性神经变性。选择性剪接导致多种转录物变体,其中至少一种编码经受蛋白水解加工的同种型。[由RefSeq提供,2015年11月]
国际国内该碱基因序列的其他英语文字母简称:
AGU, ASRG, GA
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4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:178351928;结束位置坐标为:178363657。该基因序列在GRCh38版本中的起始位置坐标为:177430774;结束位置坐标为:177442503。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。
佳学基因解码对该基因的功能分类:国际版
Enzymes/ENZYME proteins/Hydrolases
基因解码对该基因的功能分类:中文版
酶/酶蛋白/水解酶
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):
Aspartylglucosamidase (AGA) deficiency; Aspartylglucosaminuria; Amino acid level abnormal; Anterior beaking of lumbar vertebrae; Fabry Disease; Spondylolysis; Decreased pneumatization of frontal sinus; Hypoplastic frontal sinuses; Hypotrophic frontal sinus; Broad face; Macroorchidism; Spondylolisthesis; Large face; Vacuolated lymphocytes; Beaked vertebral bodies; Hernia; Wedging of vertebra; Abnormality of the ulna; Pfaundler-Hurler Syndrome; Dyskinetic syndrome; Increased thickness of cranium; Thickened calvaria; Pathological fracture; Abnormal cortical bone morphology; Thick vermilion border; Hoarseness; Mitral regurgitation, mild; Gingival Overgrowth; Mitral Valve Insufficiency; Acne; Gingival Hypertrophy; Gingival Hyperplasia; Congenital small ears; Neutrophil count decreased; Congenital pectus carinatum; Joint laxity; Platyspondyly; Speech Disorders; Full lower lip; Prominent lower lip; Macroglossia; Macrostomia; Dental caries; Rotting teeth; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Mandibular hyperplasia; Umbilical hernia; mandibular excess (physical finding); Brachycephaly; Broad cranium shape; Wide skull shape; Supratentorial atrophy; Degenerative brain disorder; Developmental regression; Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive; Coarse facial features; Thickened facial skin with coarse facial features; Hyperkyphosis; Delayed speech and language development; Language Delay; Speech Delay; Speech impairment; Kyphosis deformity of spine; Diarrhea; Short nose; Small nose; Abnormality of metabolism/homeostasis; Delayed bone age; Recurrent respiratory infections; Cerebral atrophy; Anteverted nostril; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Muscle Spasticity; Lens Opacities; Broad flat nasal bridge; Nasal bridge wide; Cataract; Orbital separation excessive; Hepatomegaly; Acquired scoliosis; Curvature of spine; Small head; Short stature; Epilepsy; Muscle hypotonia; Seizures; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia; Autosomal recessive predisposition
如果该基因突变后,风险可能增加的疾病类型(中文版):
天冬氨酰葡糖苷酶 (AGA) 缺乏症;天冬氨酰氨基葡萄糖尿症;氨基酸水平异常;腰椎前突;法布里病;椎骨溶解;额窦气化减少;发育不良的额窦;萎缩性额窦;宽脸;大兰花病;脊椎滑脱;大脸;空泡淋巴细胞;喙状椎体;疝;椎骨楔形;尺骨异常; Pfaundler-Hurler 综合症;运动障碍综合征;颅骨厚度增加;加厚的颅骨;病理性骨折;皮质骨形态异常;厚朱红色边框;嘶哑;二尖瓣反流轻度;牙龈增生;二尖瓣关闭不全;粉刺;牙龈肥大;牙龈增生;先天性小耳朵;中性粒细胞计数减少;先天性鸡胸;关节松弛;鸭嘴兽;言语障碍;饱满的下唇;突出的下唇;巨舌症;巨口症;龋齿;蛀牙; III 类咬合不正;下颌肥大;下颌骨增大;下颌骨增生;脐疝;下颌过长(物理发现);短头畸形;宽颅骨形状;宽颅骨形状;幕上萎缩;退化性脑病;发育退化;失去发展里程碑;童年时期精神退化;神经发育退化;精神运动退化;婴儿期开始的精神运动退化;婴儿精神运动退化;精神运动性退化进行性;粗糙的面部特征;面部皮肤增厚五官粗糙;脊柱后凸;言语和语言发育迟缓;语言延迟;语音延迟;言语障碍;脊柱后凸畸形;腹泻;鼻子短;小鼻子;新陈代谢/稳态异常;骨龄延迟;反复呼吸道感染;脑萎缩;鼻孔前倾;鼻梁凹陷;鼻梁凹陷;鼻根/鼻梁凹陷;肌肉痉挛;晶状体混浊;宽扁的鼻梁;鼻梁宽;白内障;轨道分离过度;肝肿大;后天性脊柱侧凸;脊柱弯曲;小头;身材矮小;癫痫;肌肉张力减退;癫痫发作;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;精神分裂症;常染色体隐性易感性
GWAS基因检测所建立的与该基因的疾病关联(国际版):
Heart Rate
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):
心率
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):
正在通过基因解码技术进行收集、查证并编辑,请关注佳学基因,获得及明更新的人类基因序列变化与疾病表征数据库的更新内容