【佳學(xué)基因檢測】基因篩查包中為什么一定要有CHRNG基因?
基因檢測的序列名稱:
CHRNG
人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼:
1146
人體基因序列數(shù)據(jù)庫中國際交流名稱全稱
cholinergic receptor nicotinic gamma subunit
中國數(shù)據(jù)庫中基因全稱:
膽堿能受體煙堿樣γ亞基
基因檢測報告英文版基因簡介
The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]
基因突變所影響的基因信息
哺乳動物肌肉型乙酰膽堿受體是一種跨膜五聚體糖蛋白,具有兩個α亞基,一個β,一個δ和一個ε(在成人骨骼肌中)或γ(在胎兒和失神經(jīng)中)。編碼γ亞基的該基因在人妊娠的第三十三周之前表達。乙酰膽堿受體的γ亞基在神經(jīng)肌肉器官發(fā)生和配體結(jié)合中起作用,并且γ亞基表達的破壞阻止了受體在細胞膜中的正確定位。該基因的突變會導(dǎo)致Escobar綜合征和致命性的多發(fā)性翼狀syndrome肉綜合征。肌肉型乙酰膽堿受體是自身免疫性重癥肌無力的主要抗原。[由RefSeq提供,2009年9月]
國際國內(nèi)該堿基基因序列的其他英語文字母簡稱:
ACHRG
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2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:233404424;結(jié)束位置坐標為:233411038。該基因序列在GRCh38版本中的起始位置坐標為:232539727;結(jié)束位置坐標為:232546328。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/Transporter channels and pores
基因解碼對該基因的功能分類:中文版
轉(zhuǎn)運體/轉(zhuǎn)運體通道和孔
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):
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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):
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
該基因序列變化后增加的疾病風(fēng)險(國際版):
Absence of labia majora; Anterior clefting of vertebral bodies; Bilateral camptodactyly; Dysplastic patella; Exostosis of external ear canal; Multiple pterygium syndrome; Neck pterygia; Intercrural pterygium; Myasthenic Syndromes, Congenital; Pterygium, Antecubital; Abnormal cervical curvature; Aplasia of muscle; Hypoplastic heart; Camptodactyly of toe; Diaphragmatic Eventration; Multiple pterygia; Popliteal pterygium; Fused cervical vertebrae; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; Symphalangism affecting the phalanges of the hand; Axillary pterygia; Talipes Calcaneovalgus; Long clavicle; Patellar aplasia; Malignant hyperpyrexia due to anesthesia; Early severe fetal akinesia sequence; Pena-Shokeir syndrome type I; Akinesia; Congenital dislocation of radial head; Respiratory Distress Syndrome; Hypoplasia of nipple; Rib fusion; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the skin; Defect of vertebral segmentation; Hypoplastic finger; Short finger; Congenital anomaly of neck; Deformity of neck; Malformation of the neck; Increased susceptibility to fractures; Lymphangioma, Cystic; Thin rib; Fused vertebrae; Spinal fusion; Vertebral body fusion; Vertical Talus; Bone Diseases, Developmental; Foot Deformities; Facial asymmetry; Pointed chin; Neck webbing; Congenital diaphragmatic hernia; Syndactyly; Congenital hypoplasia of lung; Distortion of face; Dysmorphic facies; Funny looking face; Syndactyly of fingers; facial deformity; Arachnodactyly; Depressed nasal ridge; Downturned corners of mouth; Decreased joint mobility; Arthrogryposis; Reduced fetal movement; Congenital anomaly of face; Telecanthus; Edema; Long face; Flexion contracture of proximal interphalangeal joint; Microstomia; Umbilical hernia; Polyhydramnios; Hernia, Inguinal; Contracture of joint; Flexion contracture; Flexion contractures of joints; Contracture; Pectus excavatum; Penile hypospadias; Congenital clubfoot; Hyperkyphosis; Kyphosis deformity of spine; Conductive hearing loss; Hypogonadism; Long philtrum; Downward slant of palpebral fissure; Uranostaphyloschisis; Infant, Small for Gestational Age; Intrauterine retardation; Congenital Epicanthus; Low set ears; Fetal Growth Retardation; Byzanthine arch palate; Cleft Palate; Blepharoptosis; Orbital separation excessive; Cryptorchidism; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Small head; Short stature; 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):
沒有大陰唇;椎體前裂;雙側(cè)彎曲;發(fā)育不良的髕骨;外耳道外生疣;多發(fā)性翼狀胬肉綜合征;頸部翼狀胬肉;間翼狀胬肉;先天性肌無力綜合征;翼狀胬肉肘前;頸椎曲度異常;肌肉發(fā)育不全;心臟發(fā)育不全;腳趾彎曲;膈肌膨出;多發(fā)性翼狀胬肉;腘翼狀胬肉;融合頸椎;多發(fā)性翼狀胬肉綜合征致死型;影響手的指骨的交感神經(jīng);腋窩翼狀胬肉;跟骨馬蹄足;長鎖骨;髕骨發(fā)育不全;麻醉引起的惡性高熱;早期嚴重胎兒運動不能序列; Pena-Shokeir 綜合征 I 型;運動不能;先天性橈骨頭脫位;呼吸窘迫綜合征;乳頭發(fā)育不全;肋骨融合;腹壁肌肉組織發(fā)育不全/發(fā)育不全;皮膚發(fā)育不全/發(fā)育不全;椎體分割缺陷;手指發(fā)育不全;手指短;頸部先天性異常;頸部畸形;頸部畸形;骨折易感性增加;淋巴管瘤囊性;細肋;融合椎骨;脊柱融合;椎體融合;垂直距骨;骨骼疾病發(fā)育;足部畸形;面部不對稱;尖下巴;頸帶;先天性膈疝;并指;先天性肺發(fā)育不全;面部扭曲;畸形面容;滑稽的臉;手指并指;面部畸形;蛛形綱;鼻梁凹陷;嘴角下垂;關(guān)節(jié)活動度下降;關(guān)節(jié)攣縮癥;胎動減少;面部先天性異常;內(nèi)眥贅皮;浮腫;拉長著臉;近端指間關(guān)節(jié)屈曲攣縮;小口癥;臍疝;羊水過多;疝氣腹股溝;關(guān)節(jié)攣縮;屈曲攣縮;關(guān)節(jié)屈曲攣縮;攣縮;漏斗胸;陰莖尿道下裂;先天性馬蹄內(nèi)翻足;脊柱后凸;脊柱后凸畸形;傳導(dǎo)性聽力損失;性腺機能減退;長人中;瞼裂向下傾斜; Uranostaphyloschisis;嬰兒小于胎齡兒;宮內(nèi)發(fā)育遲緩;先天性內(nèi)眥贅皮;低位耳朵;胎兒生長遲緩;拜占庭拱形上顎;腭裂;上瞼下垂;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;小頭;身材矮小;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):
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
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):
Galantamine (Channel activity)
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):
加蘭他敏(頻道活動)
(責(zé)任編輯:佳學(xué)基因)