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An example would be a seemingly silent mutation in the multidrug resistance gene 1 , which codes for a cellular membrane pump that expels drugs from the cell, can slow down translation and allow the peptide chain to fold into an unusual conformation, causing the mutant pump to be less functional (in MDR1 protein e.g. C1236T polymorphism changes ...
A silent mutation in the multidrug resistance gene 1 , which codes for a cellular membrane pump that expels drugs from the cell, can slow down translation in a specific location to allow the peptide chain to bend into an unusual conformation. Thus, the mutant pump is less functional.
Types of mutations that can be introduced by random, site-directed, combinatorial, or insertional mutagenesis. In molecular biology, mutagenesis is an important laboratory technique whereby DNA mutations are deliberately engineered to produce libraries of mutant genes, proteins, strains of bacteria, or other genetically modified organisms. The ...
Cells expressing a mutant form of the CFTR protein are resistant to invasion by the Salmonella typhi bacterium, the agent of typhoid fever, and mice carrying a single copy of mutant CFTR are resistant to diarrhea caused by cholera toxin. [32] The most common mutations that cause cystic fibrosis and pancreatic insufficiency in humans are: [33]
A synonymous mutation can affect transcription, splicing, mRNA transport, and translation, any of which could alter the resulting phenotype, rendering the synonymous mutation non-silent. [3] The substrate specificity of the tRNA to the rare codon can affect the timing of translation, and in turn the co-translational folding of the protein. [1]
1244 12780 Ensembl ENSG00000023839 ENSMUSG00000025194 UniProt Q92887 Q8VI47 RefSeq (mRNA) NM_000392 NM_013806 RefSeq (protein) NP_000383 NP_038834 Location (UCSC) Chr 10: 99.78 – 99.85 Mb Chr 19: 43.77 – 43.83 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Multidrug resistance-associated protein 2 (MRP2) also called canalicular multispecific organic anion transporter 1 (cMOAT ...
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ABCB11 is a gene associated with progressive familial intrahepatic cholestasis type 2 (PFIC2). [5] [11] [12] [13] PFIC2 caused by mutations in the ABCB11 gene increases the risk of hepatocellular carcinoma in early life. [14]