NPHP1[HGNC][GeneCards][NCBI] 基因种类(locus group) protein-coding gene 同源简称(alias symbol) JBTS4|SLSN1 基因家族代码(gene_family_id) [HGNC][GenScript] omim代码 607100 entrez码 4867[Vega] ensembl基因码 ENSG00000144061[Ensembl] 基因家族(gene family) ...
显示更多 + 数据库 Gene ID:4867NPHP1 UniProt:O15259NPHP1 研究领域 神经科研 神经科研 视觉和视网膜 產品图片 GTX45112 WB Image WB analysis of human fetal heart tissue using GTX45112 NPHP1 antibody at 0.2-1μg/ml. 文献引用 目前没有使用NPHP1 antibody, Internal (GTX45112)的文献被收录。快来回报...
¥1900.00元/format:100ul 目录号:IPB0551 库存:现货 规格 产品信息 Catalog No :IPB0551 Reactivity:Human; Mouse; Applications:WB; ELISA Dilution:WB: 1:500-2000 ELISA: 1:5000-20000 Gene Name:NPHP1 NPH1 Protein Name:Nephrocystin-1 (Juvenile nephronophthisis 1 protein) ...
从Gene 2 Phenotype(G2P,基因型与表型数据库)来看,NPHP1为双等位基因遗传模式,杂合性缺失可能并...
The coding sequence of the EGFP gene contains more than 190 silent base changes which correspond to human codon-usage preferences. Sequences flanking EGFP have been converted to a Kozak consensus translation initiation site to further increase the translation efficiency in eukaryotic cells. The MCS ...
The coding sequence of the EGFP gene contains more than 190 silent base changes which correspond to human codon-usage preferences. Sequences flanking EGFP have been converted to a Kozak consensus translation initiation site to further increase the translation efficiency in eukaryotic cells. The MCS ...
Conclusions : These data suggest that homozygous NPHP1 gene deletions result in a mild retinal ciliopathy that predominantly affects cones, but with relative sparing of the fovea. The distinct retinal phenotype is visible on OCT and usually remains without obvious correlates on clinical examination ...
The major NPHP1 gene defect is a large homozygous deletion found in 80% of the patients. In this study, by large-scale genomic sequencing and pulsed-field gel electrophoresis analysis, we characterized the complex organization of the NPHP1 locus and determined the mutational mechanism that results...
Juvenile nephronophthisis type 1 is caused by mutations of NPHP1, the gene encoding for nephrocystin. Nephrocystin interacts with p130Cas (BCAR1), proline-rich tyrosine kinase-2 (PTK2B or Pyk2), and tensin in embryonic kidney and testis, indicating that these proteins participate in a common...
Gene Info — NPHP1 Interactomes Diseases Related Products H00004867-B01P NPHP1 purified MaxPab mouse polyclonal antibody (B01P) H00004867-D01 NPHP1 MaxPab rabbit polyclonal antibody (D01) H00004867-D01P NPHP1 purified MaxPab rabbit polyclonal antibody (D01P) ...