【佳學(xué)基因檢測(cè)】疾病風(fēng)險(xiǎn)評(píng)估時(shí)查看是否包含F(xiàn)LNB重要嗎？

基因檢測(cè)的序列名稱：

FLNB

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2317

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

filamin B

中國數(shù)據(jù)庫中基因全稱：

纖維蛋白B

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

基因突變所影響的基因信息

該基因編碼纖維蛋白家族的成員。編碼的蛋白質(zhì)與糖蛋白Ibα相互作用，是修復(fù)血管損傷的過程的一部分。血小板糖蛋白Ib復(fù)合物包括糖蛋白Ibα，并且它結(jié)合肌動(dòng)蛋白細(xì)胞骨架。已經(jīng)在幾種情況下發(fā)現(xiàn)了該基因的突變：1型和3型的骨形成?；匦S發(fā)育不良;?常染色體顯性遺傳拉森綜合征；和脊椎腕骨滑膜綜合征。已經(jīng)為該基因描述了編碼不同蛋白質(zhì)同工型的多個(gè)選擇性剪??接的轉(zhuǎn)錄變體。[由RefSeq提供，2009年11月]

國際國內(nèi)該堿基基因序列的其他英語文字母簡(jiǎn)稱：

ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP

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3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：57994127；結(jié)束位置坐標(biāo)為：58157982。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：58008400；結(jié)束位置坐標(biāo)為：58172255。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：國際版

Transporters/Accessory Factors Involved in Transport

基因解碼對(duì)該基因的功能分類：中文版

轉(zhuǎn)運(yùn)蛋白/參與轉(zhuǎn)運(yùn)的輔助因素

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（國際版）：

Cytosol;Plasma membraneActin filaments;Golgi apparatus

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）：

胞質(zhì)溶膠；質(zhì)膜肌動(dòng)蛋白絲；高爾基體

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：

Atelosteogenesis Type 3; Atelosteogenesis, type 1; Boomerang dysplasia; C2-C3 subluxation; Cervical spine segmentation defects; Distal tapering femur; Larsen syndrome; Larsen syndrome, dominant type; Multinucleated giant chondrocytes in epiphyseal cartilage; Poorly ossified vertebrae; Rarefaction of retinal pigmentation; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; Thoracic platyspondyly; Tombstone-shaped proximal phalanges; Widened distal phalanges; Accessory carpal bone; Block vertebrae; Broad distal phalanges; Cervical kyphosis; Delayed coalescence of calcaneal ossification centers; Hypoplastic iliac body; Hypoplastic nasal septum; Multiple carpal ossification centers; Proximal club shaped femurs; Abnormality of the radius; Hitchhiker thumb; Horizontal sacrum; Hypoplasia or unilateral/bilateral absence of ulna; Hypoplastic cervical vertebrae; Spatulate thumbs; Equinovalgus deformity; Severe short-limb dwarfism; Talipes Equinovalgus; Fused cervical vertebrae; Hypoplastic/aplastic fibulae; Spondylolysis; Abnormality of the femur; Abnormality of the humerus; Brachyonychia; Fibular aplasia; 11 pairs of ribs; Broad face; Bronchomalacia; Laryngostenosis; Congenital hypoplasia of femur; Coronal cleft vertebrae; Abnormality of the tibia; Beaked vertebral bodies; Clubbing; Dilatation of aorta; Tracheal Stenosis; Wedging of vertebra; Compression of spinal cord; Flat acetabular roof; Restrictive lung disease; Restrictive ventilatory defect; Tracheomalacia; Carpal synostosis; Hearing Loss, Mixed Conductive-Sensorineural; Spina Bifida Occulta; Tarsal Coalition; Aplasia/Hypoplasia of the lungs; Radial bowing; Shallow orbits; Short-trunked dwarfism; Abnormal development of end part of bone; Epiphyseal dysplasia; Neonatal Death; Absence of radius and ulna; Absent radius; Radial aplasia; ODONTOID HYPOPLASIA; Short upper arms; Abnormality of the metacarpal bones; Aplasia/Hypoplasia of the abdominal wall musculature; Stillbirth; Preauricular skin tag; Skin tag on the posterior cheek; Tibial bowing; Congenital cerebral hernia; Congenital omphalocele; Short metatarsal; Hydrops Fetalis; Prominent back of the head; Prominent occiput; Sandal gap; Rhizomelia; Broad nasal tip; Broad thumbs; Cystic kidney; Renal cyst; Isolated somatotropin deficiency; Defective enamel matrix; Dental Enamel Hypoplasia; Dysplasia of tooth enamel; Thin dental enamel; Dwarfism; Abnormality of pelvic girdle bone morphology; Short metacarpal; Syndactyly of fingers; Clouding of corneal stroma; Short distal phalanges; Thin hypoplastic alae nasi; Flat face; Congenital pectus carinatum; Corneal Opacity; Narrow thorax; Joint laxity; Lordosis; Micromelia; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Bulging forehead; Premature birth of newborn; Prominent forehead; Acquired flat foot; Flatfoot; Isolated cases; Premature Birth; Joint hyperflexibility; Cleft Lip; Hypodontia; Polyhydramnios; Atrial Septal Defects; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Pectus excavatum; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Bilateral fifth finger clinodactyly; Congenital clubfoot; Curvature of little finger; Ventricular Septal Defects; Conductive hearing loss; Brachydactyly; Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Delayed bone age; Short neck; Frontal bossing; Uranostaphyloschisis; Infant, Small for Gestational Age; Intrauterine retardation; Fetal Growth Retardation; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Cleft Palate; Lens Opacities; Broad flat nasal bridge; Nasal bridge wide; Cataract; Orbital separation excessive; Cryptorchidism; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Short stature; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia; 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）：

型骨質(zhì)疏松癥；成骨質(zhì)疏松癥1 型；飛旋鏢發(fā)育不良； C2-C3半脫位；頸椎分割缺陷；遠(yuǎn)端逐漸變細(xì)的股骨；拉森綜合癥；拉森綜合征顯性型；骨骺軟骨中的多核巨軟骨細(xì)胞；椎骨骨化不良；視網(wǎng)膜色素沉著稀疏；脊椎關(guān)節(jié)發(fā)育遲緩綜合征；胸椎扁平椎;墓碑狀的近端指骨；加寬遠(yuǎn)端指骨；副腕骨；塊椎骨;廣泛的遠(yuǎn)端指骨；頸椎后凸；跟骨骨化中心的延遲合并；發(fā)育不全的髂體；鼻中隔發(fā)育不全；多個(gè)腕骨骨化中心；近端棒狀股骨；半徑異常；搭便車的拇指；水平骶骨；發(fā)育不全或單側(cè)/雙側(cè)尺骨缺失；頸椎發(fā)育不全；刮大拇指；馬蹄內(nèi)翻畸形；嚴(yán)重的短肢侏儒癥；馬蹄足；融合頸椎;發(fā)育不良/再生障礙性腓骨；椎骨溶解；股骨異常;肱骨異常;短甲癥；腓骨發(fā)育不全； 11對(duì)肋骨；寬臉;支氣管軟化癥；喉狹窄；先天性股骨發(fā)育不全；冠狀裂椎骨；脛骨異常;喙?fàn)钭刁w；泡吧；主動(dòng)脈擴(kuò)張;氣管狹窄；椎骨楔形;脊髓受壓；平坦的髖臼頂；限制性肺病；限制性通氣障礙；氣管軟化癥；腕關(guān)節(jié)早閉；聽力損失混合傳導(dǎo)-感覺神經(jīng)性；脊柱裂隱匿；跗骨聯(lián)盟；肺發(fā)育不全/發(fā)育不全；徑向彎曲；淺軌道；短軀干侏儒癥；骨末端發(fā)育異常；骨骺發(fā)育不良;新生兒死亡；沒有橈骨和尺骨；缺少半徑；放射狀發(fā)育不全；齒狀突發(fā)育不全；上臂短；掌骨異常;腹壁肌肉組織發(fā)育不全/發(fā)育不全；死胎;耳前皮贅；臉頰后部的皮膚標(biāo)簽；脛骨彎曲；先天性腦疝；先天性臍膨出；短跖骨;胎兒水腫；突出的后腦勺；突出的枕骨；涼鞋縫隙；根莖;寬鼻尖；大拇指；囊性腎;腎囊腫；孤立的生長激素缺乏癥；牙釉質(zhì)基質(zhì)缺陷；牙釉質(zhì)發(fā)育不全；牙釉質(zhì)發(fā)育不良;薄牙釉質(zhì)；侏儒癥；骨盆帶骨形態(tài)異常；短掌骨；手指并指；角膜基質(zhì)混濁；遠(yuǎn)端指骨短；薄型發(fā)育不全的鼻翼；平面；先天性雞胸；角膜混濁；狹窄的胸部;關(guān)節(jié)松弛；前凸;小梅利亞；上頜骨突出減少；上頜骨缺乏；上頜骨發(fā)育不全;上頜骨營養(yǎng)不良；上頜后縮;上頜骨后縮；額頭隆起；新生兒早產(chǎn)；突出的額頭；后天性扁平足；扁平足;孤立個(gè)案；早產(chǎn)；關(guān)節(jié)過度靈活；唇裂；缺牙癥;羊水過多;房間隔缺損；眼球突出；突出的眼睛;突出的地球儀；突出的眼睛;漏斗胸;面部中部突出減少；中面部營養(yǎng)不良；面中部后縮；中臉?。浑p側(cè)小指彎曲；先天性馬蹄內(nèi)翻足；小指彎曲；室間隔缺損；傳導(dǎo)性聽力損失；短指；營養(yǎng)不良的顴骨;顴骨變平；鼻子短；小鼻子;骨齡延遲；脖子短；正面凸起； Uranostaphyloschisis;嬰兒小于胎齡兒；宮內(nèi)發(fā)育遲緩;胎兒生長遲緩；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；腭裂；晶狀體混濁；寬扁的鼻梁；鼻梁寬；白內(nèi)障;軌道分離過度；隱睪;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；身材矮??；智力遲鈍；智力低下；智力低下；精神缺陷；學(xué)習(xí)成績差；智力殘疾;精神分裂癥;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