【佳學(xué)基因檢測(cè)】AKT1基因檢測(cè)的作用

基因檢測(cè)的序列名稱：

AKT1

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：

207

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱

AKT serine/threonine kinase 1

中國(guó)數(shù)據(jù)庫(kù)中基因全稱：

AKT絲氨酸/蘇氨酸激酶1

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)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]

基因突變所影響的基因信息

AKT1基因編碼的絲氨酸-蘇氨酸蛋白激酶在血清饑餓的原代和永生化成纖維細(xì)胞中無催化活性。AKT1和相關(guān)的AKT2被血小板衍生的生長(zhǎng)因子激活。激活是快速且特異的，并且被AKT1的pleckstrin同源域中的突變所廢除。結(jié)果表明，活化是通過磷脂酰肌醇3-激酶發(fā)生的。在發(fā)育中的神經(jīng)系統(tǒng)中，AKT是生長(zhǎng)因子誘導(dǎo)的神經(jīng)元存活的關(guān)鍵介質(zhì)。生存因子可以通過激活絲氨酸/蘇氨酸激酶AKT1來以轉(zhuǎn)錄獨(dú)立的方式抑制細(xì)胞凋亡，然后使磷酸化并使細(xì)胞凋亡機(jī)制的成分失活。該基因的突變與變形桿菌綜合征有關(guān)。已發(fā)現(xiàn)該基因有多個(gè)選擇性剪???

國(guó)際國(guó)內(nèi)該堿基基因序列的其他英語文字母簡(jiǎn)稱：

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

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第14號(hào)染色體上。

基因解碼對(duì)基因序列的精準(zhǔn)定位

該基因序列在GRCh37版本中的起始位置坐標(biāo)為：105235686；結(jié)束位置坐標(biāo)為：105262080。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：104769349；結(jié)束位置坐標(biāo)為：104795743。精準(zhǔn)的基因信息定位是基因檢測(cè)和對(duì)檢測(cè)結(jié)果進(jìn)行準(zhǔn)確解讀的關(guān)鍵。

佳學(xué)基因解碼對(duì)該基因的功能分類：國(guó)際版

Enzymes/{ENZYME proteins/Transferases,Kinases/AGC Ser/Thr protein kinases};RAS pathway related proteins

基因解碼對(duì)該基因的功能分類：中文版

酶/{ENZYME proteins/Transferases,Kinases/AGC Ser/Thr protein kinases};RAS通路相關(guān)蛋白

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）：

Microtubules;Nucleus

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）：

微管；細(xì)胞核

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國(guó)際版）：

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

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

考登綜合癥 2型；皮膚色素脫失/色素沉著過度；下頜骨過度生長(zhǎng)；腳底皮膚肥大；下頜骨化增加；下頜骨肥厚;厚厚的下顎骨；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；變形桿菌綜合癥；皮下脂肪組織分布異常；良性眼腫瘤未明確；先天性靜脈異常；先天性支氣管囊腫；眼睛本身的皮樣肉瘤；乳腺纖維腺瘤；血栓性靜脈炎;上肢不對(duì)稱；精索靜脈曲張；先天性巨指癥；甲狀腺炎;局限于皮膚的血管異常；主動(dòng)脈瓣鈣化；胸部不對(duì)稱；顱骨肥厚;顱骨擴(kuò)大;顱骨骨化增加;痣表皮（紊亂）；卵巢乳頭狀腺癌；皮膚病血管；腿長(zhǎng)不等；陰莖異常;血管樣條紋;結(jié)膜錯(cuò)構(gòu)瘤;無性細(xì)胞瘤;先天性動(dòng)靜脈畸形；先天性偏側(cè)肥大；深靜脈血栓形成;大腸息肉;睪丸鞘膜積液；皮下脂肪瘤;薄骨皮質(zhì);甲狀腺濾泡性腺瘤；肺分葉異常；脊髓受壓；胃腸道錯(cuò)構(gòu)瘤性息肉；錯(cuò)構(gòu)瘤綜合征多發(fā)性；錯(cuò)構(gòu)性息肉;皮膚標(biāo)簽；皮膚草莓痣； Marfanoid體型；椎管狹窄；乳腺癌-卵巢癌家族性易感性2型；子宮平滑肌肉瘤; T 細(xì)胞淋巴瘤；內(nèi)臟血管瘤?。幌倭鲂越Y(jié)腸息肉??；角化過度普遍;甲狀腺機(jī)能亢進(jìn)；粘膜毛細(xì)血管擴(kuò)張癥；肌肉萎縮；結(jié)腸憩室解剖結(jié)構(gòu)；結(jié)腸憩室病;乳腺惡性腫瘤；多發(fā)性脂肪瘤； Cafe au lait 點(diǎn)多個(gè)；裂開的舌頭；精神病物質(zhì)誘發(fā)；膀胱移行細(xì)胞癌；結(jié)節(jié)性硬化癥的纖維性皮膚腫瘤；甲狀腺腫；遺傳性非息肉病性結(jié)直腸癌；進(jìn)行性巨頭畸形；皮脂腺瘤;斑點(diǎn)；痣;血管瘤海綿狀；終末震顫；增加胃癌；淋巴阻塞;青春期前后出現(xiàn)淋巴水腫；肺栓塞；動(dòng)作震顫；脂肪瘤;淋巴水腫；腦膜瘤;血管瘤;乳頭狀瘤;乳腺癌；增生;中度智力低下（IQ 35-49）；非癌性痣；頭頸部鱗狀細(xì)胞癌；異常形狀的椎骨;心血管異常；肌肉量減少；不規(guī)則色素沉著；大麻濫用；急性早幼粒細(xì)胞白血??；卵巢囊腫;纖維化；黑色素細(xì)胞痣;丘疹;角化過度;張開嘴;圓臉;圓形全臉；手指并指；蛛形綱；甲狀腺功能減退癥;多個(gè)皮下結(jié)節(jié)；皮下結(jié)節(jié)；男性乳房發(fā)育癥;惡病質(zhì)；心血管疾病;骨骼發(fā)育異常；脊柱后凸畸形;掌跖角化病；體細(xì)胞突變；上頜骨突出減少；上頜骨缺乏；上頜骨發(fā)育不全;上頜骨營(yíng)養(yǎng)不良；上頜后縮;上頜骨后縮；巨舌癥；皮膚腫瘤；拉長(zhǎng)著臉;骨軟骨發(fā)育不良;苯丙胺相關(guān)疾?。还铝€(gè)案；長(zhǎng)而窄的頭；小口癥；狹窄的顱骨形狀；窄頭型；狹窄的顱骨形狀； Turridolicochephaly;疼痛;成人發(fā)病；大耳廓；發(fā)育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松軟的耳朵； Macrotia;漏斗胸;卵巢腫瘤;精神障礙；認(rèn)知障礙；心肌病;脊柱后凸;炎;心臟肥大；脊柱后凸畸形；近視;鱗狀細(xì)胞癌;新陳代謝/穩(wěn)態(tài)異常；腎細(xì)胞癌；進(jìn)行性疾病；大顱骨;頭圍增加；顱骨體積增大；顱骨尺寸增大；瞼裂向下傾斜；先天性耳聾；部分聽力損失；情緒障礙；脾腫大;拜占庭拱形上顎；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聾；聽力受損;肺腫瘤；晶狀體混濁；結(jié)直腸腫瘤；上瞼下垂；嬰兒期發(fā)??；白內(nèi)障;軌道分離過度；小腦性共濟(jì)失調(diào)；精神抑郁癥；肥胖;發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；后天性脊柱側(cè)凸；脊柱彎曲；胃腫瘤；抑郁癥；乳腺腫瘤；前列腺腫瘤；躁郁癥;癲癇;癲癇發(fā)作；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;精神分裂癥

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）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容

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（中文版）：

以該基因做靶點(diǎn)的藥物（國(guó)際版）：

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)

針對(duì)該基因所產(chǎn)生的突變，可能有精準(zhǔn)效果的藥物（中文版）：

三磷酸腺苷（蛋白質(zhì)絲氨酸/蘇氨酸/酪氨酸激酶活性）；三氧化二砷（蛋白質(zhì)絲氨酸/蘇氨酸/酪氨酸激酶活性）；肌醇 1,3,4,5-四磷酸（蛋白質(zhì)絲氨酸/蘇氨酸/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（蛋白質(zhì)絲氨酸/蘇氨酸/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）

AKT1基因檢測(cè)的作用