Examlex
The Human Genome Project is a multinational project that reported complete identification of more than 20,000 genes in human DNA. Growing understanding has associated "normal" and naturally variable versions of the genes, producing specific proteins for human health and cell functions. Numerous mutated versions of the genes have been associated with particular human health problems and disease, due to the types of cells where mutations occur, the specific genes affected, and the type and extent of mutation. In these cases, the structure and function of proteins is ultimately impacted. Examine these examples to apply your knowledge of mutations to the descriptions provided.
-Humans have a gene called PDHA1,which codes for one protein that functions as an enzyme in the cell.It helps energy pathways,by modifying pyruvate molecules into acetyl CoA molecules.Researchers have identified an insertion mutation in the gene,which produces an extra amino acid within the otherwise normal sequence in the protein.In this type of mutation,
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