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重组11号染色体开放阅读框5蛋白
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介绍 基因名: CWC15 半岛bd体育手机客户端 别名: AD002; C11orf5; Cwf15; HSPC148; ORF5; CWC15; CWC15 spliceosome associated protein homolog; CWC15 spliceosome associated protein homolog; spliceosome-associated protein CWC15 homolog; CWC15 spliceosome-associated protein; 11号染色体开放阅读框5; 背景信息: CWC15 is a 229 amino acid protein involved in pre-mRNA splicing. The gene encoding CWC15 maps to human chromosome 11q21. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and β thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11. 标签:His-tag |
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