苯丙酮尿症是常见的遗传代谢障碍性疾病,最常见的病因是由PAH基因突变导致的。我国PKU的发病率约1/11144,PAH突变在普通人群的携带率为1/35,已明确是我国新生儿筛查的必查疾病之一[1]。 目前该基因突变在PAHvdb数据库(http://www.biopku.org/...
Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran. Gene. 2012;506(1):230-2.Hamzehloei T, Hosseini SA, Vakili R, Mojarad M (2012) Mutation spec- trum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran. Gene 506:230-...
【Keywords】phenylketonuria;exon;HRM;Mutationalhotspot;GeneDiagnosis 苯丙酮尿症(phenylketonuria,PKU)是一种氨基酸代谢异常的常染色体隐性遗传病。由于苯丙氨酸羟化酶(phenylalaninehydroxylase,PAH)缺陷或活性降低,导致苯丙氨酸不能正常转化为酪氨酸,苯丙氨酸在体内异常蓄积并打破大脑氨基酸的平衡而引起中枢神经系统的损伤[1]...
关键字:PKU;PKU1;PAH;苯丙氨酸羟化酶(PAH)重组蛋白; 公司简介 上海博尔森生物科技有限公司成立于2020年09月02日,注册地位于上海市松江区石湖荡镇石湖新路95号。 上海博尔森生物科技有限公司虽然年轻,但朝气蓬勃,志向远大; 更是一家专注于生命科学与生物技术领域,集产品研发、生产、销售为一体的高科技公司,并立志...
Synonyms PAH, PH, Phe 4 monooxygenase, Phenylalanine 4 hydroxylase, phenylalanine hydroxylase, PKU, PKU1 Calculated Molecular Weight 452 aa, 52 kDa Observed Molecular Weight 52 kDa GenBank Accession Number BC026251 Gene Symbol PAH Gene ID (NCBI) 5053 RRID AB_2878247 Conjugate Unconjugated Form ...
基因别名:AW106920; PAH; PH; PKU; PKU1 UniProt ID:(Human) P00439,(Mouse) P16331 Entrez Gene ID:(Human) 5053,(Mouse) 18478,(Rat) 24616 功能 phenylalanine 4-monooxygenase activityiron ion bindingamino acid bindingprotein homodimerization activitycofactor bindingcatalytic activitymonooxygenase activity...
基因别名: PAH; PH; PKU; PKU1 UniProt ID: (Human) P00439 Entrez Gene ID: (Human) 5053 功能 phenylalanine 4-monooxygenase activity iron ion binding amino acid binding protein homodimerization activity cofactor binding 参与通路 L-phenylalanine catabolic process tyrosine biosynthetic process cell...
GenScript offers PAH gene in any custom vector for your molecular biology studies by ordering an PAH ORF clone.
This is a Phase 1/2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic Phenylketonuria (PKU). NGGT002 is an rAAV8 based vector carrying a functional copy of the human PAH gene. ...
One hundred eighty PKU-deficient and 20 PKU-normal DNA samples were tested by DNA sequencing and the established method in the double-blind experiment to assess specificity and accuracy. Results PCR amplification result of PAH gene fragment Using multiplex PCR in a single tube, we amplified PAH ...