【佳學(xué)基因檢測(cè)】ERCC2基因篩查有突變?cè)趺崔k？

基因檢測(cè)的序列名稱：

ERCC2

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2068

人體基因序列數(shù)據(jù)庫中國(guó)際交流名稱全稱

ERCC excision repair 2, TFIIH core complex helicase subunit

中國(guó)數(shù)據(jù)庫中基因全稱：

ERCC切除修復(fù)2，TFIIH核心復(fù)雜解旋酶亞基

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

基因突變所影響的基因信息

核苷酸切除修復(fù)途徑是修復(fù)DNA損傷的機(jī)制。該基因編碼的蛋白質(zhì)參與轉(zhuǎn)錄偶聯(lián)的核苷酸切除修復(fù)，并且是基礎(chǔ)轉(zhuǎn)錄因子BTF2 / TFIIH復(fù)合體的組成部分。該基因產(chǎn)物具有ATP依賴的DNA解旋酶活性，屬于解旋酶的RAD3 / XPD亞家族。該基因的缺陷可導(dǎo)致三種不同的疾病，即易患癌癥的色素干皮癥補(bǔ)充群D，毛發(fā)硫代營(yíng)養(yǎng)不良和Cockayne綜合征。已經(jīng)發(fā)現(xiàn)該基因的編碼不同同工型的剪接的轉(zhuǎn)錄變體。[由RefSeq提供，2008年8月]

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：

COFS2, EM9, TFIIH, TTD, TTD1, XPD

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19號(hào)染色體上。

基因解碼對(duì)基因序列的正確定位

該基因序列在GRCh37版本中的起始位置坐標(biāo)為：45854649；結(jié)束位置坐標(biāo)為：45873845。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：45349837；結(jié)束位置坐標(biāo)為：45370647。正確的基因信息定位是基因檢測(cè)和對(duì)檢測(cè)結(jié)果進(jìn)行正確解讀的關(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/Hydrolases

基因解碼對(duì)該基因的功能分類：中文版

酶/酶蛋白/水解酶

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）：

Nucleoplasm

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）：

核質(zhì)

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

Cerebrooculofacioskeletal Syndrome 2; Sunburn; Xeroderma Pigmentosum, Complementation Group D; Lack of subcutaneous fatty tissue; Photosensitive Trichothiodystrophy; CAMFAK syndrome; Cerebrooculofacioskeletal Syndrome 1; Numerous pigmented freckles; Pena Shokeir syndrome Type 2; Large beaked nose; Hardened artery wall; Trichothiodystrophy Syndromes; Defective DNA repair after ultraviolet radiation damage; Hyperkeratosis, Epidermolytic; Peripheral demyelinating neuropathy; Entropion; Xeroderma Pigmentosum; Abnormality of the face; Disorder of face; Arteriosclerosis; Occupational Diseases; Squamous cell carcinoma of skin; Conjunctival telangiectasis; Death in childhood; Poikiloderma; Prominent metopic ridge; Abnormal nasal morphology; Abnormality of immune system physiology; Congenital Nonbullous Ichthyosiform Erythroderma; Fragile nails; Spider Veins; Telangiectasis; Precociously senile appearance; Abnormality of the thorax; Intestinal Obstruction; Ectropion; Reactive airway disease; IgG Deficiency; Basal cell nevi; Hypoplasia of scrotum; Keratitis; Brittle hair; Exfoliative dermatitis; Fractured hair; Fragile hair; Papilloma; Reduced tensile strength of hair; Vertical Talus; Atrophic condition of skin; Choreoathetoid movements; Choreoathetosis; Freckles; Mental deterioration; Conjunctivitis; Conjunctivitis, recurrent; Progressive mental retardation; Skin Abnormalities; Telangiectasia of the skin; Hyperpigmented macules; Decreased to absent deep tendon reflexes; Hyperkeratosis; Global developmental delay, severe; Severe psychomotor retardation; Thin skin; Recurrent infections; Cerebellar hypoplasia and atrophy; Cerebral calcification; Basal cell carcinoma; Arthrogryposis; Everted lower lip vermilion; Protruding lower lip; Photosensitivity of skin; Cachexia; Retinal Diseases; Congenital anomaly of face; Erythema; Flushing; Kyphoscoliosis deformity of spine; hypopigmented skin patch; Dental abnormalities; Enophthalmos; Sunken eyes; Skin Neoplasms; Low Birth Weights; Small for gestational age (disorder); Tooth Abnormalities; Flexion contracture of proximal interphalangeal joint; Dry skin; Xerosis; Death in early childhood; Death in infancy; Joint stiffness; Muscle Hypertonia; Arthralgia; Contracture of joint; Flexion contracture; Flexion contractures of joints; Dermatologic disorders; Contracture; Abnormally small eyeball; Decreased size of eyeball; Asthma; Microphthalmos; 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; Electroencephalogram abnormal; Mental impairment; Impaired cognition; Hydrocephalus; Bladder Neoplasm; Squamous cell carcinoma; Photodysphoria; Photophobia; Decreased tendon reflex; Hypogonadism; Fever; Short neck; Feeding difficulties in infancy; Low Vision; Visual Impairment; Infant, Small for Gestational Age; Intrauterine retardation; Congenital hypoplasia of penis; Cerebral atrophy; Congenital deafness; Fetal Growth Retardation; Hearing Loss, Partial; Fatigue; Deafness; Muscle Spasticity; hearing impairment; melanoma; Optic Atrophy; Lens Opacities; Colorectal Neoplasms; Broad flat nasal bridge; Nasal bridge wide; Cataract; Cerebellar Ataxia; Cryptorchidism; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Sensorineural Hearing Loss (disorder); Stomach Neoplasms; Failure to gain weight; Pediatric failure to thrive; Small head; Prostatic Neoplasms; Short stature; Epilepsy; Muscle hypotonia; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Autosomal recessive predisposition

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

腦面骨骼綜合癥 2型；曬斑;著色性干皮病補(bǔ)充組 D；缺乏皮下脂肪組織；光敏毛硫營(yíng)養(yǎng)不良； CAMFAK 綜合征；腦面骨骼綜合癥 2型；許多色素性雀斑； Pena Shokeir 綜合征 2 型；大喙鼻；硬化的動(dòng)脈壁；毛發(fā)硫營(yíng)養(yǎng)不良綜合征；紫外線照射損傷后DNA修復(fù)缺陷；角化過度表皮松解癥；外周脫髓鞘性神經(jīng)病；熵;色素干皮??；面部異常；面部疾??；動(dòng)脈硬化;職業(yè)??；皮膚鱗狀細(xì)胞癌；結(jié)膜毛細(xì)血管擴(kuò)張癥;童年死亡；皮膚異色癥；突出的主題脊；鼻腔形態(tài)異常；免疫系統(tǒng)生理異常；先天性非大皰性魚鱗病樣紅皮?。淮嗳醯闹讣?；蜘蛛靜脈;毛細(xì)血管擴(kuò)張;早熟衰老的外表；胸部異常;腸梗阻;外翻;反應(yīng)性氣道疾?。?IgG 缺乏癥；基底細(xì)胞痣；陰囊發(fā)育不全;角膜炎;脆弱的頭發(fā);剝脫性皮炎;頭發(fā)斷裂；脆弱的頭發(fā);乳頭狀瘤;頭發(fā)的抗拉強(qiáng)度降低；垂直距骨；皮膚萎縮狀況；舞蹈手足徐動(dòng)癥；舞蹈手足徐動(dòng)癥；雀斑；精神衰退；結(jié)膜炎;結(jié)膜炎反反復(fù)作；進(jìn)行性智力低下；皮膚異常；皮膚毛細(xì)血管擴(kuò)張;色素沉著斑；深腱反射減弱至消失；角化過度;整體發(fā)育遲緩嚴(yán)重；嚴(yán)重的精神運(yùn)動(dòng)遲緩；皮膚薄;反復(fù)感染；小腦發(fā)育不全和萎縮；腦鈣化；基底細(xì)胞癌；關(guān)節(jié)攣縮癥；外翻下唇朱紅色；下唇突出；皮膚光敏性；惡病質(zhì)；視網(wǎng)膜疾?。幻娌?a href='http://jinzhounet.cn/cp/chabiyin/' target='_blank'>先天性異常；紅斑;法拉盛；脊柱后凸畸形;色素減退的皮膚貼片；牙齒異常；眼球內(nèi)陷；凹陷的眼睛；皮膚腫瘤；低出生體重；小于胎齡兒（疾?。谎例X異常；近端指間關(guān)節(jié)屈曲攣縮；皮膚干燥;干燥癥;童年早期死亡；嬰兒期死亡；關(guān)節(jié)僵硬；肌肉張力亢進(jìn)；關(guān)節(jié)痛;關(guān)節(jié)攣縮；屈曲攣縮；關(guān)節(jié)屈曲攣縮；皮膚?。粩伩s;異常小的眼球；眼球變小；哮喘;小眼球;發(fā)育退化；失去發(fā)展里程碑；童年時(shí)期精神退化；神經(jīng)發(fā)育退化；精神運(yùn)動(dòng)退化；嬰兒期開始的精神運(yùn)動(dòng)退化；嬰兒精神運(yùn)動(dòng)退化；精神運(yùn)動(dòng)性退化進(jìn)行性；腦電圖異常；精神障礙；認(rèn)知障礙；腦積水;膀胱腫瘤；鱗狀細(xì)胞癌;光煩躁；畏光;肌腱反射減弱；性腺機(jī)能減退；發(fā)燒;脖子短；嬰兒喂養(yǎng)困難；低視力;視力障礙；嬰兒小于胎齡兒；宮內(nèi)發(fā)育遲緩;先天性陰莖發(fā)育不全；腦萎縮；先天性耳聾；胎兒生長(zhǎng)遲緩；部分聽力損失；疲勞;耳聾；肌肉痙攣；聽力受損;黑色素瘤;視神經(jīng)萎縮；晶狀體混濁；結(jié)直腸腫瘤；寬扁的鼻梁；鼻梁寬；白內(nèi)障;小腦性共濟(jì)失調(diào)；隱睪;斜視；發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；感音神經(jīng)性聽力損失（障礙）；胃腫瘤；未能增加體重；兒科發(fā)育不良；小頭;前列腺腫瘤；身材矮?。?a href='http://jinzhounet.cn/cp/chabiyin/shenjin/2023/40917.html' target='_blank'>癲癇;肌肉張力減退；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;常染色體隱性易感性

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）：

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)庫的更新內(nèi)容

以該基因做靶點(diǎn)的藥物（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)庫的更新內(nèi)容

針對(duì)該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

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)庫的更新內(nèi)容