ConclusionA causative mutation c.1429G>A (p.Glu477Lys) in the KRT5 gene was identified in the patient with severe epidermolysis bullosa simplex, which was a de novo mutation. KEYWORDS: Epidermolysis bullosa simplex;DNA mutational analysis;Keratin-5;KRT5 gene Corresponding author: Sun Jianfang, ...
These two novel gene variants within the KRT5 gene may be responsible for EBS, thus improving understanding of the genetic basis of EBS.doi:10.3892/etm.2024.12420Liu,LinliLu,QinglianLuo,HuiYu,ChunshuiExperimental and Therapeutic Medicine
Mutation analysis of the KRT5 gene in a Chinese pedigree with Dowling-Degos disease Wei Jin1, Zang Dongjie2, Zeng Sanwu2, Jiang Jing3, Lun Wenhui1 PDF 5 PDF (Mobile) 0 摘要/Abstract 摘要:【摘要】 目的 分析Dowling-Degos病1家系KRT5基因突变情况。方法 收集先证者临床资料,调查先证者家族3代共...
提供的KRT5人源重组蛋白(P01)产品为带有GST标签的人源KRT5全长序列重组蛋白,其对应的GeneID号为3852。 产品描述 与其它公司提供的重组蛋白不同,该KRT5人源全长重组蛋白(P01)产品为采用CFS的无细胞麦胚蛋白合成系统表达出来的重组蛋白,可表达出对细胞有毒性、易被蛋白酶降解的蛋白;并获得具有良好的可溶性,并有翻译...
Gene ID (NCBI) 3852 Alternative Names CK5;DDD;DDD1;EBS2;K5;KRT5A Application Notes: The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user. WB 1:500 - 1:2000
Gene Symbol Cytokeratin 5 Gene ID (NCBI) 3852 Conjugate Unconjugated Form Liquid Purification Method Protein A purification UNIPROT ID P13647 Storage Buffer PBS Only Storage Conditions Store at -80°C. The product is shipped with ice packs. Upon receipt, store it immediately at -80°CProteinte...
Full Name keratin 5 Calculated Molecular Weight 590 aa, 62 kDa GenBank Accession Number BC024292 Gene Symbol Cytokeratin 5 Gene ID (NCBI) 3852 Conjugate Unconjugated Form Liquid Purification Method Protein A purification Storage Buffer PBS Only Storage Conditions Store at -80°C. Proteintech...
Loss-of-function mutations in the keratin 5 gene (KRT5) affected family members and in six unrelated patients with Dowling-Degos disease (DDD), an autosomal dominant genodermatosis. This suggests a crucial role for keratins in the organization of cell adhesion, melanosome uptake, organelle...
目录号 NM-KO-225074 品系状态 胚胎冻存 导出PDF 基因信息 基因名 Krt5 基因曾用名 K5,CK5,Tfip8,Krt2-5,AW146334,3300001P10Rik NCBI ID 110308 MGI ID 96702 Ensembl ID ENSMUSG00000061527 Pubmed Krt5 人类同源基因 KRT5 品系描述 Exon 2 of Krt5 gene was deleted to generate Krt5 knockout mice. ...