【佳学基因检测】遗传代谢科基因筛查知识测验中关于FAS的准备

基因检测的序列名称：

FAS

人体基因序列变化与疾病表征数据库中的基因代码：

355

人体基因序列数据库中国际交流名称全称

Fas cell surface death receptor

中国数据库中基因全称：

Fas细胞表面死亡受体

基因检测报告英文版基因简介

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]

基因突变所影响的基因信息

该基因编码的蛋白质是TNF受体超家族的成员。该受体包含死亡结构域。已经表明它在程序性细胞死亡的生理调节中起着核心作用，并且已经与各种恶性肿瘤和免疫系统疾病的发病机理有关。该受体与其配体的相互作用允许形成包括Fas相关死亡域蛋白（FADD），胱天蛋白酶8和胱天蛋白酶10的诱导死亡的信号复合物。胱天蛋白酶在该复合物中的自蛋白水解过程触发了下游胱天蛋白酶。级联，并导致凋亡。还显示该受体可激活NF-κB，MAPK3 / ERK1和MAPK8 / JNK，并被发现参与正常二倍体成纤维细胞和T细胞中增殖信号的转导。已ು୔

国际国内该碱基基因序列的其他英语文字母简称：

ALPS1A, APO-1, APT1, CD951, FASTM, TNFRSF6, FAS

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10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：90750288；结束位置坐标为：90775542。该基因序列在GRCh38版本中的起始位置坐标为：88968429；结束位置坐标为：89017061。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

CD markers

基因解码对该基因的功能分类：中文版

CD标记

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）：

Plasma membraneCytosol

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）：

质膜胞质溶胶

该基因序列变化后增加的疾病风险（国际版）：

Poliosis; Taste Disorders; Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors; Increased number of peripheral CD3+ T cells; Increased proportion of HLA DR+ and CD57+ T cells; Malaria, Falciparum; Neutrophil antibody positive; Rheumatoid factor positive (finding); Smooth muscle antibodies positive; Uveomeningoencephalitic Syndrome; Antiphospholipid antibody positivity; Coombs positive hemolytic anemia; Defective lymphocyte apoptosis; Follicular hyperplasia; Hypersplenism; Increased levels of IgG; Platelet antibody positive; Pregnancy Complications, Cardiovascular; Reduced delayed hypersensitivity; Autoimmune neutropenia; Elevated serum IgA; Autoimmune Lymphoproliferative Syndrome; Chronic noninfectious lymphadenopathy; Myasthenia Gravis; Iridocyclitis; Pauciarticular juvenile rheumatoid arthritis; Iron deficiency anemia; Immunologic Hypersensitivity; Juvenile rheumatoid arthritis; Polyarthritis; Eyebrow abnormalities; Orchitis; Abnormal eyelashes; Aphthous Stomatitis; Autoimmune hemolytic anemia; C-reactive protein increased; Elevated C-reactive protein level; Recurrent aphthous ulcer; Increased IgM levels; Oral Ulcer; Nephritis; Acute Lung Injury; Anti-nuclear factor positive; Hematological Disease; Ventricular Dysfunction, Left; Vitiligo; ESR raised; Autoimmune thrombocytopenia; Confusion; Idiopathic thrombocytopenia; Behcet Syndrome; Lymphoma, T-Cell, Cutaneous; Vasculitis; Immune thrombocytopenic purpura; Premature canities; Joint swelling; Apraxias; Meningitis; Eosinophilia; Liver Failure, Acute; Urticaria; Retinal Detachment; Acne; Diffuse Large B-Cell Lymphoma; Non-alcoholic Fatty Liver Disease; Sparse scalp hair; Hemiparesis; Papule; Venous Thrombosis; Gastrointestinal Hemorrhage; Arthritis; Decreased joint mobility; Necrosis; Multiple, subcutaneous nodules; Subcutaneous nodule; Abnormal blistering of the skin; Blister of skin; Skin bulla; Angle class 2 malocclusion; Angle class 3 malocclusion; Malocclusion; Myalgia; hypopigmented skin patch; Autoimmune Diseases; Intermittent migraine headaches; Cardiomyopathy, Dilated; Migraine Disorders; Arthralgia; Nausea and vomiting; Mental impairment; Impaired cognition; Abdominal Pain; Diabetes Mellitus, Experimental; Cardiomyopathies; Bladder Neoplasm; Glaucoma; Leukemia, Myelocytic, Acute; Photodysphoria; Photophobia; Proteinuria; Fever; Gait abnormality; Diabetes Mellitus, Non-Insulin-Dependent; Low Vision; Visual Impairment; Splenomegaly; Fatigue; Lung Neoplasms; Lens Opacities; Cataract; Hepatomegaly; Sensorineural Hearing Loss (disorder); Short stature; Schizophrenia

如果该基因突变后，风险可能增加的疾病类型（中文版）：

小儿麻痹症；味觉障碍；表达 alpha/beta T 细胞受体的 CD4-/CD8-T 细胞数量增加；外周 CD3+ T 细胞数量增加； HLA DR+ 和 CD57+ T 细胞比例增加；疟疾恶性疟；中性粒细胞抗体阳性；类风湿因子阳性（发现）；平滑肌抗体阳性；葡萄膜脑炎综合征；抗磷脂抗体阳性； Coombs 阳性溶血性贫血；淋巴细胞凋亡缺陷；滤泡增生;脾功能亢进; IgG 水平升高；血小板抗体阳性；妊娠并发症心血管；减少迟发性超敏反应；自身免疫性中性粒细胞减少症；血清 IgA 升高；自身免疫性淋巴增生综合征；慢性非感染性淋巴结肿大；重症肌无力；虹膜睫状体炎； Pauciarticular 幼年类风湿性关节炎;缺铁性贫血;免疫超敏反应；幼年类风湿性关节炎;多发性关节炎；眉毛异常；睾丸炎;睫毛异常；口疮性口炎;自身免疫性溶血性贫血; C反应蛋白升高； C反应蛋白水平升高；复发性阿弗他溃疡； IgM 水平升高；口腔溃疡；肾炎;急性肺损伤；抗核因子阳性；血液病；心室功能障碍左；白癜风； ESR 升高；自身免疫性血小板减少症;困惑;特发性血小板减少症;白塞综合征；淋巴瘤T 细胞皮肤；血管炎;免疫性血小板减少性紫癜；早产；关节肿胀；失用症；脑膜炎;嗜酸性粒细胞增多；肝功能衰竭急性；荨麻疹;视网膜脱离；粉刺;弥漫性大 B 细胞淋巴瘤；非酒精性脂肪肝病；头发稀疏；偏瘫；丘疹;静脉血栓形成；胃肠道出血；关节炎;关节活动度下降；坏死;多个皮下结节；皮下结节；皮肤异常起泡；皮肤起泡；皮肤大疱；角度 2 级错牙合；角度 3 级错牙合；咬合不正；肌痛;色素减退的皮肤贴片；自身免疫性疾病；间歇性偏头痛；心肌病扩张型；偏头痛；关节痛;恶心和呕吐;精神障碍；认知障碍；腹痛；糖尿病实验性的；心肌病;膀胱肿瘤；青光眼;白血病髓细胞性急性；光烦躁；畏光;蛋白尿；发烧;步态异常；糖尿病非胰岛素依赖性；低视力;视力障碍；脾肿大;疲劳;肺肿瘤；晶状体混浊；白内障;肝肿大；感音神经性听力损失（障碍）；身材矮小；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）：

Immunoglobulin A

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）：

免疫球蛋白A

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