【佳学基因检测】高精度分子诊断为什么包含ATP7A基因？

基因检测的序列名称：

ATP7A

人体基因序列变化与疾病表征数据库中的基因代码：

538

人体基因序列数据库中国际交流名称全称

ATPase copper transporting alpha

中国数据库中基因全称：

ATPase铜转运α

基因检测报告英文版基因简介

This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]

基因突变所影响的基因信息

该基因编码跨膜蛋白，该蛋白在铜跨膜转运中起作用。该蛋白质位于反反高尔基体网络中，据预测在该网络中分泌途径会将铜提供给铜依赖性酶。在细胞外铜含量升高的情况下，它会重新定位于质膜，并起铜从细胞中流出的作用。该基因的突变与Menkes病，X连锁的远端脊髓性肌萎缩症和枕角综合征有关。已经观察到剪接的转录物变体。[由RefSeq提供，2013年8月]

国际国内该碱基基因序列的其他英语文字母简称：

DSMAX, MK, MNK, SMAX3

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，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容号染色体上。

基因解码对基因序列的精准定位

该基因序列在GRCh37版本中的起始位置坐标为：77166194；结束位置坐标为：77305892。该基因序列在GRCh38版本中的起始位置坐标为：77910656；结束位置坐标为：78050395。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Enzymes/ENZYME proteins/Hydrolases;Transporters/Primary Active Transporters

基因解码对该基因的功能分类：中文版

酶/酶蛋白/水解酶；转运蛋白/初级活性转运蛋白

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）：

Golgi apparatus;Vesicles

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）：

高尔基体；囊泡

该基因序列变化后增加的疾病风险（国际版）：

Abnormality of the carotid arteries; Cutis laxa, x-linked; Spinal Muscular Atrophy, Distal, X-Linked 3; Tortuous carotid artery; Abnormal peripheral nervous system morphology; Carcinoma of bladder; Menkes Kinky Hair Syndrome; Metaphyseal spurs; Limited knee extension; Long neck; Pelvic exostoses; Persistent open anterior fontanelle; Neurologic Manifestations; Stricture of artery; Venous Insufficiency; Aortic Rupture; Broad clavicle; Capitate-hamate fusion; Neointima; Aneurysmal disease; Hemolysis (disorder); Ureteral obstruction; Aneurysm; Hiatal Hernia; Abnormality of the face; Bladder Diverticulum; Disorder of face; Exostoses; Broad ribs; Hair hypopigmentation; Afro-textured hair; Kinky hair texture; Nappy hair texture; Death in childhood; Spinal Muscular Atrophy; Ataxia; Intracranial Hemorrhages; EMG: neuropathic changes; Short upper arms; Aplasia/Hypoplasia of the abdominal wall musculature; Hypothermia, natural; Prolonged neonatal jaundice; Soft skin; Velvety skin; Wooly hair; Abnormality of the palate; Congenital hypoplasia of clavicle; Hypotension, Orthostatic; Neonatal Jaundice; Limited elbow extension; Diffusely thickened skin; Pachyderma; Coxa valga; Coxa valga deformity; Prominent back of the head; Prominent occiput; Hepatitis, Chronic; Metaphyseal widening; Cutis Laxa; Generalized elastolysis; Hanging skin; Structure of wormian bone; Hypopigmentation disorder; Mask-like facies; Redundant skin; Gait, Unsteady; Chronic diarrhea; Coarse hair; Rough hair texture; Skin hyperelastic; Growth Disorders; Convex nasal ridge; Paralysed; Abnormality of the metaphyses; Chubby cheeks; Full cheeks; Hyperplasia of cheeks; Hypertrophy of cheeks; Puffy cheeks; Distal amyotrophy; Abnormal behavior; Congenital pectus carinatum; Narrow face; Narrow thorax; Thin face; Joint laxity; Knee joint valgus deformity; Platyspondyly; Congenital anomaly of face; Sparse hair; Thin, sparse hair; Atypical scarring of skin; Distal limb muscle weakness due to peripheral neuropathy; Distal muscle weakness; Ecchymosis; Increased tendency to bruise; Hydronephrosis; Pulmonary Hypertension; Long face; Acquired flat foot; Flatfoot; Dry skin; Xerosis; Joint hyperflexibility; Umbilical hernia; Malabsorption; Brachycephaly; Broad cranium shape; Congenital pes cavus; Muscle Hypertonia; Wide skull shape; Hernia, Inguinal; Slow progression; Liver Neoplasms, Experimental; Nausea and vomiting; Pectus excavatum; 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; High forehead; Tall forehead; X- linked recessive; Tremor; Hyperkyphosis; Kyphosis deformity of spine; Decreased tendon reflex; Peripheral Neuropathy; Long philtrum; Colonic Neoplasms; Anemia; Osteoporosis; Feeding difficulties in infancy; Infant, Small for Gestational Age; Intrauterine retardation; Muscle Weakness; Fetal Growth Retardation; Fatigue; Byzanthine arch palate; Muscle Spasticity; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Small head; Short stature; Epilepsy; Muscle hypotonia; Seizures; 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）：

颈动脉异常;皮肤松弛x连锁；脊髓性肌萎缩症远端X-连锁 2型；曲折的颈动脉;周围神经系统形态异常；膀胱癌； Menkes 卷发综合症；干骺端骨刺；膝关节伸展受限；长颈;盆腔外生骨疣；持续开放的前囟门；神经系统表现；动脉狭窄；静脉功能不全；主动脉破裂；宽锁骨；头状钩骨融合；新内膜;动脉瘤病；溶血（紊乱）；输尿管梗阻；动脉瘤；食管裂孔疝;面部异常；膀胱憩室；面部疾病；外生骨疣；肋骨宽；头发色素减退；非洲质感的头发；卷曲的头发质地；尿布质地；童年死亡；脊髓性肌萎缩症；共济失调；颅内出血；肌电图：神经性改变；上臂短；腹壁肌肉组织发育不全/发育不全；体温过低自然；长期新生儿黄疸;软皮;天鹅绒般的皮肤；羊毛状的头发；上颚异常；先天性锁骨发育不全；低血压体位性；新生儿黄疸；肘部伸展受限；皮肤普遍增厚；厚皮病；髋外翻；髋外翻畸形；突出的后脑勺；突出的枕骨；肝炎慢性；干骺端扩大；皮肤松弛；广泛性弹性组织溶解；挂皮；蠕虫骨骼的结构；色素减退症；面具般的面容；多余的皮肤；步态不稳；慢性腹泻；头发粗；毛发质地粗糙；皮肤超弹性；生长障碍；凸鼻梁；瘫痪；干骺端异常；胖嘟嘟的脸颊;饱满的脸颊；脸颊增生;脸颊肥大;浮肿的脸颊；远端肌萎缩；异常行为;先天性鸡胸；窄脸；狭窄的胸部;瘦脸;关节松弛；膝关节外翻畸形；鸭嘴兽;面部先天性异常；稀疏的头发；稀疏的头发；非典型皮肤疤痕；周围神经病变引起的远端肢体肌肉无力；远端肌肉无力；瘀斑;瘀伤倾向增加；肾积水;肺动脉高压;拉长着脸;后天性扁平足；扁平足;皮肤干燥;干燥症;关节过度灵活；脐疝;吸收不良；短头畸形；宽颅骨形状；先天性高弓足；肌肉张力亢进；宽颅骨形状；疝气腹股沟；进展缓慢；肝肿瘤实验性的；恶心和呕吐;漏斗胸;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；高额头;额头高； X连锁隐性；震颤;脊柱后凸;脊柱后凸畸形；肌腱反射减弱；周围神经病变；长人中；结肠肿瘤；贫血;骨质疏松症；婴儿喂养困难；婴儿小于胎龄儿；宫内发育迟缓;肌肉无力;胎儿生长迟缓；疲劳;拜占庭拱形上颚；肌肉痉挛；发育不全的下颌骨髁；下颌发育不全;小颌畸形；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

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

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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）：

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，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

以该基因做靶点的药物（国际版）：

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，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

针对该基因所产生的突变，可能有精准效果的药物（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，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容