【佳学基因检测】AKT1基因检测的作用

基因检测的序列名称：

AKT1

人体基因序列变化与疾病表征数据库中的基因代码：

207

人体基因序列数据库中国际交流名称全称

AKT serine/threonine kinase 1

中国数据库中基因全称：

AKT丝氨酸/苏氨酸激酶1

基因检测报告英文版基因简介

The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]

基因突变所影响的基因信息

AKT1基因编码的丝氨酸-苏氨酸蛋白激酶在血清饥饿的原代和永生化成纤维细胞中无催化活性。AKT1和相关的AKT2被血小板衍生的生长因子激活。激活是快速且特异的，并且被AKT1的pleckstrin同源域中的突变所废除。结果表明，活化是通过磷脂酰肌醇3-激酶发生的。在发育中的神经系统中，AKT是生长因子诱导的神经元存活的关键介质。生存因子可以通过激活丝氨酸/苏氨酸激酶AKT1来以转录独立的方式抑制细胞凋亡，然后使磷酸化并使细胞凋亡机制的成分失活。该基因的突变与变形杆菌综合征有关。已发现该基因有多个选择性剪​ು୔

国际国内该碱基基因序列的其他英语文字母简称：

AKT, CWS6, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA

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14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：105235686；结束位置坐标为：105262080。该基因序列在GRCh38版本中的起始位置坐标为：104769349；结束位置坐标为：104795743。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/Transferases,Kinases/AGC Ser/Thr protein kinases};RAS pathway related proteins

基因解码对该基因的功能分类：中文版

酶/{ENZYME proteins/Transferases,Kinases/AGC Ser/Thr protein kinases};RAS通路相关蛋白

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）：

Microtubules;Nucleus

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）：

微管；细胞核

该基因序列变化后增加的疾病风险（国际版）：

COWDEN SYNDROME 6; Depigmentation/hyperpigmentation of skin; Excessive growth of mandibular bone; Hypertrophy of skin of soles; Increased ossification of lower jaw; Mandibular hyperostosis; Thick lower jaw bone; Enlargement of facial bones; Hyperostosis of facial bones; Hypertrophy of facial bones; Increased ossification of facial bones; Lymphangioma; Proteus Syndrome; Abnormal subcutaneous fat tissue distribution; Benign neoplasm of eye, unspecified; Congenital abnormality of vein; Congenital bronchogenic cyst; Dermoid choristoma of eye proper; Fibroadenoma of breast; Thrombophlebitis; Upper limb asymmetry; Varicocele; Congenital macrodactylia; Thyroiditis; Vascular abnormalities restricted to skin; Aortic valve calcification; Asymmetric chest; Calvarial hyperostosis; Enlargement of calvarial bones; Increased ossification of calvarial bones; NEVUS, EPIDERMAL (disorder); Ovarian papillary adenocarcinoma; Skin Diseases, Vascular; Leg Length Inequality; Abnormality of the penis; Angioid Streaks; Conjunctival hamartoma; Dysgerminoma; Congenital arteriovenous malformation; Congenital hemihypertrophy; Deep Vein Thrombosis; Polyp of large intestine; Testicular Hydrocele; Subcutaneous lipomas; Thin bony cortex; Thyroid Gland Follicular Adenoma; Abnormal lung lobation; Compression of spinal cord; Gastrointestinal hamartomatous polyps; Hamartoma Syndrome, Multiple; Hamartomatous polyp; Skin tag; Strawberry nevus of skin; Marfanoid body habitus; Spinal canal stenosis; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; Leiomyosarcoma of uterus; T-Cell Lymphoma; Visceral angiomatosis; Adenomatous Polyposis Coli; Hyperkeratosis, generalized; Hyperthyroidism; Mucosal telangiectasiae; Muscular Atrophy; Colon diverticulum anatomic structure; Diverticular disease of colon; Malignant neoplasm of breast; Multiple lipomata; Cafe au lait spots, multiple; Fissured tongue; Psychoses, Substance-Induced; Transitional cell carcinoma of bladder; Fibrous skin tumor of tuberous sclerosis; Goiter; Hereditary nonpolyposis colorectal carcinoma; Progressive macrocephaly; Sebaceous adenoma; Macule; Nevus; Hemangioma, Cavernous; Terminal tremor; Increased gastric cancer; Lymphatic obstruction; Onset of lymphedema around puberty; Pulmonary Embolism; Action Tremor; Lipoma; Lymphedema; Meningioma; Hemangioma; Papilloma; Breast Carcinoma; Hyperplasia; Moderate mental retardation (I.Q. 35-49); Noncancerous mole; Squamous cell carcinoma of the head and neck; Abnormally-shaped vertebrae; Cardiovascular Abnormalities; Decreased muscle mass; Irregular hyperpigmentation; Marijuana Abuse; Acute Promyelocytic Leukemia; Ovarian Cysts; Fibrosis; Melanocytic nevus; Papule; Hyperkeratosis; Open mouth; Round face; Round, full face; Syndactyly of fingers; Arachnodactyly; Hypothyroidism; Multiple, subcutaneous nodules; Subcutaneous nodule; Gynecomastia; Cachexia; Cardiovascular Diseases; Abnormal skeletal development; Kyphoscoliosis deformity of spine; Palmoplantar Keratosis; Somatic mutation; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Macroglossia; Skin Neoplasms; Long face; Osteochondrodysplasias; Amphetamine-Related Disorders; Isolated cases; Long narrow head; Microstomia; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; Pain; Adult onset; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Pectus excavatum; ovarian neoplasm; Mental impairment; Impaired cognition; Cardiomyopathies; Hyperkyphosis; Inflammation; Cardiomegaly; Kyphosis deformity of spine; Myopia; Squamous cell carcinoma; Abnormality of metabolism/homeostasis; Renal Cell Carcinoma; Progressive disorder; Big calvaria; Increased head circumference; Increased size of cranium; Increased size of skull; Downward slant of palpebral fissure; Congenital deafness; Hearing Loss, Partial; Mood Disorders; Splenomegaly; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; hearing impairment; Lung Neoplasms; Lens Opacities; Colorectal Neoplasms; Blepharoptosis; Infantile onset; Cataract; Orbital separation excessive; Cerebellar Ataxia; Mental Depression; Obesity; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Stomach Neoplasms; Depressive disorder; Mammary Neoplasms; Prostatic Neoplasms; Bipolar Disorder; Epilepsy; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia

如果该基因突变后，风险可能增加的疾病类型（中文版）：

考登综合症 2型；皮肤色素脱失/色素沉着过度；下颌骨过度生长；脚底皮肤肥大；下颌骨化增加；下颌骨肥厚;厚厚的下颚骨；面部骨骼增大；面部骨骼肥厚;面部骨骼肥大；面部骨骼骨化增加；淋巴管瘤；变形杆菌综合症；皮下脂肪组织分布异常；良性眼肿瘤未明确；先天性静脉异常；先天性支气管囊肿；眼睛本身的皮样肉瘤；乳腺纤维腺瘤；血栓性静脉炎;上肢不对称；精索静脉曲张；先天性巨指症；甲状腺炎;局限于皮肤的血管异常；主动脉瓣钙化；胸部不对称；颅骨肥厚;颅骨扩大;颅骨骨化增加;痣表皮（紊乱）；卵巢乳头状腺癌；皮肤病血管；腿长不等；阴茎异常;血管样条纹;结膜错构瘤;无性细胞瘤;先天性动静脉畸形；先天性偏侧肥大；深静脉血栓形成;大肠息肉;睾丸鞘膜积液；皮下脂肪瘤;薄骨皮质;甲状腺滤泡性腺瘤；肺分叶异常；脊髓受压；胃肠道错构瘤性息肉；错构瘤综合征多发性；错构性息肉;皮肤标签；皮肤草莓痣； Marfanoid体型；椎管狭窄；乳腺癌-卵巢癌家族性易感性2型；子宫平滑肌肉瘤; T 细胞淋巴瘤；内脏血管瘤病；腺瘤性结肠息肉病；角化过度普遍;甲状腺机能亢进；粘膜毛细血管扩张症；肌肉萎缩；结肠憩室解剖结构；结肠憩室病;乳腺恶性肿瘤；多发性脂肪瘤； Cafe au lait 点多个；裂开的舌头；精神病物质诱发；膀胱移行细胞癌；结节性硬化症的纤维性皮肤肿瘤；甲状腺肿；遗传性非息肉病性结直肠癌；进行性巨头畸形；皮脂腺瘤;斑点；痣;血管瘤海绵状；终末震颤；增加胃癌；淋巴阻塞;青春期前后出现淋巴水肿；肺栓塞；动作震颤；脂肪瘤;淋巴水肿；脑膜瘤;血管瘤;乳头状瘤;乳腺癌；增生;中度智力低下（IQ 35-49）；非癌性痣；头颈部鳞状细胞癌；异常形状的椎骨;心血管异常；肌肉量减少；不规则色素沉着；大麻滥用；急性早幼粒细胞白血病；卵巢囊肿;纤维化；黑色素细胞痣;丘疹;角化过度;张开嘴;圆脸;圆形全脸；手指并指；蛛形纲；甲状腺功能减退症;多个皮下结节；皮下结节；男性乳房发育症;恶病质；心血管疾病;骨骼发育异常；脊柱后凸畸形;掌跖角化病；体细胞突变；上颌骨突出减少；上颌骨缺乏；上颌骨发育不全;上颌骨营养不良；上颌后缩;上颌骨后缩；巨舌症；皮肤肿瘤；拉长着脸;骨软骨发育不良;苯丙胺相关疾病；孤立个案；长而窄的头；小口症；狭窄的颅骨形状；窄头型；狭窄的颅骨形状； Turridolicochephaly;疼痛;成人发病；大耳廓；发育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松软的耳朵； Macrotia;漏斗胸;卵巢肿瘤;精神障碍；认知障碍；心肌病;脊柱后凸;炎;心脏肥大；脊柱后凸畸形；近视;鳞状细胞癌;新陈代谢/稳态异常；肾细胞癌；进行性疾病；大颅骨;头围增加；颅骨体积增大；颅骨尺寸增大；睑裂向下倾斜；先天性耳聋；部分听力损失；情绪障碍；脾肿大;拜占庭拱形上颚；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聋；听力受损;肺肿瘤；晶状体混浊；结直肠肿瘤；上睑下垂；婴儿期发病；白内障;轨道分离过度；小脑性共济失调；精神抑郁症；肥胖;发育不全的下颌骨髁；下颌发育不全;小颌畸形；后天性脊柱侧凸；脊柱弯曲；胃肿瘤；抑郁症；乳腺肿瘤；前列腺肿瘤；躁郁症;癫痫;癫痫发作；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;精神分裂症

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）：

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以该基因做靶点的药物（国际版）：

Adenosine triphosphate (Protein serine/threonine/tyrosine kinase activity);Arsenic trioxide (Protein serine/threonine/tyrosine kinase activity);Inositol 1,3,4,5-Tetrakisphosphate (Protein serine/threonine/tyrosine kinase activity);N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine (Protein serine/threonine/tyrosine kinase activity);5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine (Protein serine/threonine/tyrosine kinase activity)

针对该基因所产生的突变，可能有正确效果的药物（中文版）：

三磷酸腺苷（蛋白质丝氨酸/苏氨酸/酪氨酸激酶活性）；三氧化二砷（蛋白质丝氨酸/苏氨酸/酪氨酸激酶活性）；肌醇 1,3,4,5-四磷酸（蛋白质丝氨酸/苏氨酸/酪氨酸激酶活性）；N-[ 2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine（蛋白质丝氨酸/苏氨酸/酪氨酸激酶活性）； 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine (Protein serine/threonine /酪氨酸激酶活性）