【佳学基因检测】SLC26A2基因突变的信息是什么时候解密的？

基因检测的序列名称：

SLC26A2

人体基因序列变化与疾病表征数据库中的基因代码：

1836

人体基因序列数据库中国际交流名称全称

solute carrier family 26 member 2

中国数据库中基因全称：

溶质载体家族26成员2

基因检测报告英文版基因简介

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]

基因突变所影响的基因信息

萎缩性非典型增生性硫酸盐转运蛋白是一种跨膜糖蛋白，与几种人类软骨发育不良的发病机理有关。显然，软骨对于蛋白聚糖的硫酸化和基质组织至关重要。[由RefSeq提供，2008年7月]

国际国内该碱基基因序列的其他英语文字母简称：

D5S1708, DTD, DTDST, EDM4, MST153, MSTP157

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5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：149340300；结束位置坐标为：149366963。该基因序列在GRCh38版本中的起始位置坐标为：149960729；结束位置坐标为：149987400。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

Transporters/Electrochemical Potential-driven transporters

基因解码对该基因的功能分类：中文版

转运蛋白/电化学电位驱动转运蛋白

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）：

Vesicles

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）：

囊泡

该基因序列变化后增加的疾病风险（国际版）：

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

如果该基因突变后，风险可能增加的疾病类型（中文版）：

软骨发育不全IB 型（疾病）； 2 型成骨质疏松症；耳廓囊性病变;发育不良;哑铃形股骨；骨骺发育不良多发2型；耳部疾病；眉间血管瘤;肥大性耳软骨；髌骨异常;颈椎后凸；肋软骨钙化；喉气管狭窄；小股骨头；异常的软骨骨化；椎体缺失或轻微骨化；搭便车的拇指；水平骶骨；颈椎发育不全；肘关节屈曲受限；缩短的骶髂切迹；影响手的指骨的交感神经；致命的骨骼发育不良；多发性骨骺发育不良；扁平骨骺；疝气股骨；冠状裂椎骨；扁平的股骨近端骨骺；肉质耳垂；身材矮小不成比例；身材矮小严重不相称；臀位展示；脊髓受压；平坦的髋臼顶；髋关节屈曲挛缩；骨骺不规则；出生时可识别的短肢侏儒症；短的中间指骨；肺发育不全/发育不全；髂骨发育不良；骨盆带的小翼；骨末端发育异常；锁骨异常;骨骺发育不良;胸廓发育不全；掌骨异常;拇指放在近端；死胎;手指发育不全；手指短；胸部短；手指尺偏；胎儿水肿；短肢侏儒症不成比例；骨硬化；短管状骨；折叠螺旋；凉鞋缝隙；骨骼疾病发育；颈部皮肤过多；短肋;异常形状的椎骨；长骨弯曲；嘶哑;肋骨异常;蓝色巩膜;腰椎前凸；侏儒症；小手；骨骺形态异常；腹部膨胀；短掌骨；干骺端异常；先天性肺发育不全；髋关节脱位先天性；胖嘟嘟的脸颊;饱满的脸颊；脸颊增生;脸颊肥大;浮肿的脸颊；平面；狭窄的胸部;鸭嘴兽;小梅利亚；脊柱后凸畸形;浮肿;发育不全的脚；近端指间关节屈曲挛缩；脐疝;关节僵硬；羊水过多;疝气腹股沟；关节痛;面部中部突出减少；中面部营养不良；面中部后缩；中脸小；双侧小指弯曲；先天性马蹄内翻足；小指弯曲；位置低、向后旋转的耳朵；脊柱后凸;脊柱后凸畸形；退行性多关节炎;短指；呼吸功能丧失；营养不良的颧骨;颧骨变平；鼻子短；小鼻子;新陈代谢/稳态异常；长人中；呼吸功能不全；脖子短；反复呼吸道感染；大颅骨;头围增加；颅骨体积增大；颅骨尺寸增大；颅面异常；正面凸起； Uranostaphyloschisis;婴儿小于胎龄儿；宫内发育迟缓;先天性耳聋；胎儿生长迟缓；部分听力损失；鼻孔前倾；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聋；腭裂；听力受损;轨道分离过度；发育不全的下颌骨髁；下颌发育不全;小颌畸形；后天性脊柱侧凸；脊柱弯曲；身材矮小；肌肉张力减退；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）：

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

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）：

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

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