【佳學(xué)基因檢測】SLC26A2基因突變的信息是什么時候解密的？

基因檢測的序列名稱：

SLC26A2

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

1836

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

solute carrier family 26 member 2

中國數(shù)據(jù)庫中基因全稱：

溶質(zhì)載體家族26成員2

基因檢測報告英文版基因簡介

The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]

基因突變所影響的基因信息

萎縮性非典型增生性硫酸鹽轉(zhuǎn)運蛋白是一種跨膜糖蛋白，與幾種人類軟骨發(fā)育不良的發(fā)病機理有關(guān)。顯然，軟骨對于蛋白聚糖的硫酸化和基質(zhì)組織至關(guān)重要。[由RefSeq提供，2008年7月]

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

D5S1708, DTD, DTDST, EDM4, MST153, MSTP157

基因解碼對該基因序列在細胞核中的染色體所給予的編號：

該基因序列位于人類第5號染色體上。

基因解碼對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為：149340300；結(jié)束位置坐標為：149366963。該基因序列在GRCh38版本中的起始位置坐標為：149960729；結(jié)束位置坐標為：149987400。正確的基因信息定位是基因檢測和對檢測結(jié)果進行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對該基因的功能分類：國際版

Transporters/Electrochemical Potential-driven transporters

基因解碼對該基因的功能分類：中文版

轉(zhuǎn)運蛋白/電化學(xué)電位驅(qū)動轉(zhuǎn)運蛋白

結(jié)構(gòu)與功能基因解碼所揭示的該基因在細胞內(nèi)發(fā)揮作用的場所（國際版）：

Vesicles

結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細胞內(nèi)位置（中文版）：

囊泡

該基因序列變化后增加的疾病風(fēng)險（國際版）：

Achondrogenesis, type IB (disorder); Atelosteogenesis type 2; Cystic lesions of the pinnae; Diastrophic dysplasia; Dumbbell-shaped femur; EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; Ear Diseases; Glabellar hemangioma; Hypertrophic auricular cartilage; Abnormality of the patella; Cervical kyphosis; Costal cartilage calcification; Laryngotracheal stenosis; Small femoral heads; Abnormal enchondral ossification; Absent or minimally ossified vertebral bodies; Hitchhiker thumb; Horizontal sacrum; Hypoplastic cervical vertebrae; Limited elbow flexion; Shortened sacroiliac notches; Symphalangism affecting the phalanges of the hand; Lethal skeletal dysplasia; Multiple Epiphyseal Dysplasia; Flat epiphyses; Hernia, Femoral; Coronal cleft vertebrae; Flat proximal femoral epiphyses; Fleshy earlobes; Short stature, disproportionate; Short stature, severe disproportionate; Breech Presentation; Compression of spinal cord; Flat acetabular roof; Flexion contracture of hip; Irregular epiphyses; Short limb dwarfism recognizable at birth; Short middle phalanges; Aplasia/Hypoplasia of the lungs; Hypoplastic ilia; Small wings of the pelvic girdle; Abnormal development of end part of bone; Abnormality of the clavicle; Epiphyseal dysplasia; Thoracic hypoplasia; Abnormality of the metacarpal bones; Proximally placed thumbs; Stillbirth; Hypoplastic finger; Short finger; Short thorax; Ulnar deviation of the fingers; Hydrops Fetalis; Short limb dwarfism, disproportionate; Osteosclerosis; Short tubular bones; Overfolded helix; Sandal gap; Bone Diseases, Developmental; Excess nuchal skin; Short ribs; Abnormally-shaped vertebrae; Bowing of the long bones; Hoarseness; Abnormality of the ribs; Blue sclera; Lumbar lordosis; Dwarfism; Small hand; Abnormality of epiphysis morphology; Abdomen distended; Short metacarpal; Abnormality of the metaphyses; Congenital hypoplasia of lung; Hip Dislocation, Congenital; Chubby cheeks; Full cheeks; Hyperplasia of cheeks; Hypertrophy of cheeks; Puffy cheeks; Flat face; Narrow thorax; Platyspondyly; Micromelia; Kyphoscoliosis deformity of spine; Edema; Hypoplastic feet; Flexion contracture of proximal interphalangeal joint; Umbilical hernia; Joint stiffness; Polyhydramnios; Hernia, Inguinal; Arthralgia; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Bilateral fifth finger clinodactyly; Congenital clubfoot; Curvature of little finger; Low-set, posteriorly rotated ears; Hyperkyphosis; Kyphosis deformity of spine; Degenerative polyarthritis; Brachydactyly; Respiratory function loss; Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Abnormality of metabolism/homeostasis; Long philtrum; Respiratory Insufficiency; Short neck; Recurrent respiratory infections; Big calvaria; Increased head circumference; Increased size of cranium; Increased size of skull; Craniofacial Abnormalities; Frontal bossing; Uranostaphyloschisis; Infant, Small for Gestational Age; Intrauterine retardation; Congenital deafness; Fetal Growth Retardation; Hearing Loss, Partial; Anteverted nostril; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Cleft Palate; hearing impairment; Orbital separation excessive; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Short stature; Muscle hypotonia; Autosomal recessive predisposition

如果該基因突變后，風(fēng)險可能增加的疾病類型（中文版）：

軟骨發(fā)育不全IB 型（疾病）； 2 型成骨質(zhì)疏松癥；耳廓囊性病變;發(fā)育不良;啞鈴形股骨；骨骺發(fā)育不良多發(fā)2型；耳部疾??；眉間血管瘤;肥大性耳軟骨；髕骨異常;頸椎后凸；肋軟骨鈣化；喉氣管狹窄；小股骨頭；異常的軟骨骨化；椎體缺失或輕微骨化；搭便車的拇指；水平骶骨；頸椎發(fā)育不全；肘關(guān)節(jié)屈曲受限；縮短的骶髂切跡；影響手的指骨的交感神經(jīng)；致命的骨骼發(fā)育不良；多發(fā)性骨骺發(fā)育不良；扁平骨骺；疝氣股骨；冠狀裂椎骨；扁平的股骨近端骨骺；肉質(zhì)耳垂；身材矮小不成比例；身材矮小嚴重不相稱；臀位展示；脊髓受壓；平坦的髖臼頂；髖關(guān)節(jié)屈曲攣縮；骨骺不規(guī)則；出生時可識別的短肢侏儒癥；短的中間指骨；肺發(fā)育不全/發(fā)育不全；髂骨發(fā)育不良；骨盆帶的小翼；骨末端發(fā)育異常；鎖骨異常;骨骺發(fā)育不良;胸廓發(fā)育不全；掌骨異常;拇指放在近端；死胎;手指發(fā)育不全；手指短；胸部短；手指尺偏；胎兒水腫；短肢侏儒癥不成比例；骨硬化；短管狀骨；折疊螺旋；涼鞋縫隙；骨骼疾病發(fā)育；頸部皮膚過多；短肋;異常形狀的椎骨；長骨彎曲；嘶啞;肋骨異常;藍色鞏膜;腰椎前凸；侏儒癥；小手；骨骺形態(tài)異常；腹部膨脹；短掌骨；干骺端異常；先天性肺發(fā)育不全；髖關(guān)節(jié)脫位先天性；胖嘟嘟的臉頰;飽滿的臉頰；臉頰增生;臉頰肥大;浮腫的臉頰；平面；狹窄的胸部;鴨嘴獸;小梅利亞；脊柱后凸畸形;浮腫;發(fā)育不全的腳；近端指間關(guān)節(jié)屈曲攣縮；臍疝;關(guān)節(jié)僵硬；羊水過多;疝氣腹股溝；關(guān)節(jié)痛;面部中部突出減少；中面部營養(yǎng)不良；面中部后縮；中臉小；雙側(cè)小指彎曲；先天性馬蹄內(nèi)翻足；小指彎曲；位置低、向后旋轉(zhuǎn)的耳朵；脊柱后凸;脊柱后凸畸形；退行性多關(guān)節(jié)炎;短指；呼吸功能喪失；營養(yǎng)不良的顴骨;顴骨變平；鼻子短；小鼻子;新陳代謝/穩(wěn)態(tài)異常；長人中；呼吸功能不全；脖子短；反復(fù)呼吸道感染；大顱骨;頭圍增加；顱骨體積增大；顱骨尺寸增大；顱面異常；正面凸起； Uranostaphyloschisis;嬰兒小于胎齡兒；宮內(nèi)發(fā)育遲緩;先天性耳聾；胎兒生長遲緩；部分聽力損失；鼻孔前傾；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聾；腭裂；聽力受損;軌道分離過度；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；身材矮小；肌肉張力減退；常染色體隱性易感性

GWAS基因檢測所建立的與該基因的疾病關(guān)聯(lián)（國際版）：

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GWAS基因檢測所解碼的該基因突變會增加風(fēng)險的疾病種類（中文版）：

正在通過基因解碼技術(shù)進行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時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

以該基因做靶點的藥物（國際版）：

正在通過基因解碼技術(shù)進行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時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)進行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時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