【佳学基因检测】爸爸基因评估分析发现CAV1突变，我需要做检测吗？

基因检测的序列名称：

CAV1

人体基因序列变化与疾病表征数据库中的基因代码：

857

人体基因序列数据库中国际交流名称全称

caveolin 1

中国数据库中基因全称：

小窝蛋白1

基因检测报告英文版基因简介

The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]

基因突变所影响的基因信息

该基因编码的支架蛋白是在大多数细胞类型中发现的小窝质膜的主要成分。该蛋白质将整联蛋白亚基与酪氨酸激酶FYN连接起来，这是将整联蛋白与Ras-ERK途径偶联并促进细胞周期进程的起始步骤。该基因是肿瘤抑制基因的候选基因，是Ras-p42 / 44丝裂原激活的激酶级联反应的负调节剂。小窝蛋白1和小窝蛋白2在染色体7上彼此相邻，并表达形成稳定的异寡聚复合物的共定位蛋白。该基因的突变与Berardinelli-Seip先天性脂肪营养不良有关。或者，剪接的转录本编码小窝蛋白1的α和β亚型。[由RefSeq提供，201ು୔

国际国内该碱基基因序列的其他英语文字母简称：

BSCL3, CGL3, LCCNS, MSTP085, PPH3, VIP21

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7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：116164839；结束位置坐标为：116201239。该基因序列在GRCh38版本中的起始位置坐标为：116524785；结束位置坐标为：116561185。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

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）：

Golgi apparatus

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

该基因序列变化后增加的疾病风险（国际版）：

Absence of subcutaneous fat over entire body except buttocks, hips, and thighs; Lipodystrophy, Congenital Generalized, Type 3; Absence of subcutaneous fat; Vascular resistance pulmonary increased; Diffuse Scleroderma; Familial partial lipodystrophy; Glaucoma, Open-Angle; Lipoatrophic Diabetes Mellitus; Narrow foramen obturatorium; CREST Syndrome; Scleroderma, Limited; Dyspareunia; Oliguria; Abnormality of the face; Disorder of face; Familial primary pulmonary hypertension; Bone Cysts; Decreased subcutaneous adipose tissue; Growth hormone excess; Mucosal telangiectasiae; Skeletal muscle hypertrophy; Acromegaly; Lipodystrophy; Hypotension, Orthostatic; Infiltrate of lung; Large hand; Broad feet; Hyperplasia of supraorbital margins; Hyperplasia of supraorbital ridge; Hypertrophy of supraorbital margins; Hypertrophy of supraorbital ridge; Lipoatrophy; Prominent supraorbital ridges; Acanthosis Nigricans; Hepatosplenomegaly; Serum cholesterol raised; Abnormal pigmentation; Clonus; Monoparesis - leg; Precocious Puberty; Weakness of lower limb; Impaired glucose tolerance; Stevens-Johnson Syndrome; Hypocalcemia; Lytic lesion; Advanced bone age; Generalized hirsutism; Hypertriglyceridemia result; Atrial Fibrillation; Hypercholesterolemia; Idiopathic pulmonary arterial hypertension; Pulmonary arterial hypertension; Telangiectasia of the skin; Xerostomia; Steatohepatitis; Hirsutism; Skin Ulcer; Gait Ataxia; Pancreatitis; Distal sensory impairment; Arthritis; Cerebellar Dysmetria; Congenital anomaly of face; Congenital Bilateral Cataracts; Congenital cataract; hypopigmented skin patch; Autoimmune Diseases; Pulmonary Hypertension; Dyspnea; Insulin Resistance; Liver Failure; Dental caries; Rotting teeth; Heartburn; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Mandibular hyperplasia; mandibular excess (physical finding); Gastroesophageal reflux disease; Pulmonary Fibrosis; Hyperhidrosis disorder; Increased sweating; Sweating; Hyperinsulinism; Malabsorption; Arthralgia; Diabetes Mellitus; Contracture of joint; Flexion contracture; Flexion contractures of joints; Hypertrophic Cardiomyopathy; Contracture; Babinski Reflex; Nausea and vomiting; Weight Gain; ovarian neoplasm; Diabetes Mellitus, Experimental; Cardiomegaly; Deglutition Disorders; Highly variable severity; Variable expressivity; Retinitis Pigmentosa; Muscle Weakness; Neoplasm Metastasis; Hepatomegaly; Hypertensive disease; Stomach Neoplasms; Nystagmus; Mammary Neoplasms; Prostatic Neoplasms; Short stature; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Liver Cirrhosis, Experimental; 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）：

除臀部、臀部和大腿外全身无皮下脂肪；脂肪代谢障碍先天性全身性3 型；没有皮下脂肪；肺部血管阻力增加；弥漫性硬皮病；家族性部分脂肪营养不良；青光眼开角型；脂肪萎缩性糖尿病；狭窄的闭孔孔； CREST 综合症；硬皮病有限公司；性交困难；少尿；面部异常；面部疾病；家族性原发性肺动脉高压；骨囊肿；皮下脂肪组织减少；生长激素过多；粘膜毛细血管扩张症；骨骼肌肥大；肢端肥大症；脂肪代谢障碍;低血压体位性；肺部浸润；大手;宽脚；眶上缘增生；眶上脊增生；眶上缘肥大；眶上脊肥大；脂肪萎缩；突出的眶上脊；黑棘皮病；肝脾肿大；血清胆固醇升高；色素沉着异常；阵挛;单轻瘫 - 腿;性早熟；下肢无力；葡萄糖耐量受损；史蒂文斯-约翰逊综合症；低钙血症;裂解性病变；骨龄提前；广泛性多毛症；高甘油三酯血症结果；心房颤动;高胆固醇血症;特发性肺动脉高压;肺动脉高压;皮肤毛细血管扩张;口干;脂肪性肝炎；多毛症；皮肤溃疡；步态共济失调；胰腺炎;远端感觉障碍；关节炎;小脑辨距障碍；面部先天性异常；先天性双眼白内障；先天性白内障；色素减退的皮肤贴片；自身免疫性疾病；肺动脉高压;呼吸困难；胰岛素抵抗;肝功能衰竭；龋齿;蛀牙;胃灼热; III 类咬合不正；下颌肥大;下颌骨增大；下颌骨增生;下颌过长（物理发现）；胃食管反流病;肺纤维化；多汗症;出汗增多；出汗;高胰岛素血症；吸收不良；关节痛;糖尿病；关节挛缩；屈曲挛缩；关节屈曲挛缩；肥厚性心肌病;挛缩;巴宾斯基反射；恶心和呕吐;体重增加;卵巢肿瘤;糖尿病实验性的；心脏肥大；吞咽障碍；高度可变的严重性；可变表现力；色素性视网膜炎;肌肉无力;肿瘤转移；肝肿大；高血压病；胃肿瘤；眼球震颤；乳腺肿瘤；前列腺肿瘤；身材矮小；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;肝硬化实验性的；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）：

Glaucoma, Open-Angle;Electrocardiography

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）：

青光眼，开角型；心电图

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