基因简称(symbol) NPHP3 [HGNC] [GeneCards] [NCBI] 基因种类(locus group) protein-coding gene 同源简称(alias symbol) NPH3|KIAA2000|FLJ30691|FLJ36696|MKS7|SLSN3|CFAP31 基因家族代码(gene_family_id) 769 [HGNC] [GenScript] omim代码 608002 entrez码 27031 [Vega] ensembl基因码 ENSG...
NPHP3 gene目的 总结2例在婴幼儿期进展为终末期肾病(ESRD)的NPHP3基因突变致肾单位肾痨(NPHP)患儿的临床特征及基因突变的特点.方法 收集患儿的一般情况,肾活检,影像学,实验室检查和基因测序结果,并行文献复习.结果 ①2例均为男性,发病年龄3和17个月,均以黄疸,肝功能异常为首发症状,2例进展至ESRD的年龄分别为...
they may further expand the NPHP3 gene mutation spectrum.%目的 总结2例在婴幼儿期进展为终末期肾病(ESRD)的NPHP3基因突变致肾单位肾痨(NPHP)患儿的临床特征及基因突变的特点.方法 收集患儿的一般情况、肾活检、影像学、实验室检查和基因测序结果,并行文献复习.结果 ①2例均为男性,发病年龄3和17个月,均以...
surveys did not identify members with similar diseases.In case 1,there were heterozygous missense mutations in the NPHP3 gene C.2369A>G (p.L790P) and c.1358A>G (p.L453P),and in 2 cases there were c.1174C>T (p.R392X) nonsense mutations and IVS26-3A>G shear mutations.Family mut...
DOMAIN STRUCTURE OF THE NPHP3 GENE PRODUCT SUGGESTS A ROLE IN REGULATING MICROTUBULE ORGANIZATION Recently, the NPHP3 gene was localized to chromosome 3q2265 and subsequently identified by positional cloning.18 Patients carrying NPHP3 mutations present with juvenile or adolescent NPH without or with ext...
Ensembl Gene IDENSG00000113971.21 Ensembl mRNA IDNPHP3-201 包装清单: 产品编号产品名称包装 QH38261SHuman NPHP3 qPCR Primer Pair1nmol each —说明书1份 保存条件: -20℃保存。建议复溶后进行适当分装,避免反复冻融。 注意事项: PCR扩增产物的长度可能会因基因转录后存在多种剪接形式而有所差异。
货号产品名称Method规格价格货期 CDS-H09007-1pDonR223-NPHP3GateWay2ug/0.5ml￥800现货 CDS-H09007-2pMD18-T-NPHP3TA克隆2ug/0.5ml￥800-15001-2周 NPHP3 重组腺病毒 货号产品名称Method规格价格货期 CDS-H09007-11rAd-NPHP3重组过表达腺病毒10^10 vg/支￥25003-5周 ...
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, MAPK7 Antibody Anti-MAPK7 Antibody Maspin/SER...
Gene ID (NCBI) 27031 RRID AB_2878975 Conjugate Unconjugated Form Liquid Purification Method Antigen affinity purification UNIPROT ID Q7Z494 Storage Buffer PBS with 0.02% sodium azide and 50% glycerol pH 7.3. Storage Conditions Store at -20°C. Stable for one year after shipment. Aliquoting is...