Protein Gene Expression and Mutations in Human Diseases
Explore the detailed information about protein gene expression, functions, mutations, associated diseases, and more. Learn about the impact of mutations on metabolism and the consequences in various human diseases.
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Presentation Transcript
Name of the topic Author, group, 2014
General information about protein (we suggest to use the websites http://ghr.nlm.nih.gov/, http://www.genecards.org/) Name Alternative names, if any Main responsibilities
Data about gene Location of the gene (in which chromosome) Length of the gene Peculiarities of promoter / terminator Number of exons / introns
Gene expression Molecular level Cellular level Organism level
Expression of the gene (2) In which tissues is expressed Which mRNAs are produced Alternative variants of mRNA as result of alternative splicing / alternative promoters Produced protein. Where is synthesized. Place of processing of the protein Location of the protein in the cell
Functions of the protein Function of the protein Processes in which is involved Interaction with other proteins
Mutations and their consequences Known mutations total number Parts of the gene which could be affected and the consequences Modifications in metabolism determined by abnormal / missing protein
Associated diseases List of the main human diseases caused by mutations
During presentation, please do not read slides, explain them Use terms and information only you know and understand Do not use copy/paste option, especially from Wikipedia You can use pictures, but you have to explain them If you need, please resize pictures proportionally Duration of presentation - ~5 minutes Be ready to answer questions As source you can use http://ghr.nlm.nih.gov/, http://www.genecards.org/
