Chapter 17: Chromosome 17 17 A Cell Nucleus 5360 bp 493 aa CHRNE DNA Sequence Chromosome 5360 bp Name of Protein 17 Name of Gene Cholinergic receptor,nicotinic, epsilon CHRNE transcription Amino acid sequence mRNA 493 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? The CHRNE gene provides instructions for making the epsilon Condition/Disease Muscle

Description of Epsilon Symptoms and characteristics The AChR protein is found in the membrane of skeletal muscle cells and plays a critical role in the neuromuscular junction, which is the area where signaling between nerve and muscle cells occurs. The subunits are assembled into the AChR protein in the endoplasmic reticulum, a cell structure involved in protein processing and transport, before being transported to the cell membrane. More than 90 mutations in the CHRNE gene have been found to cause congenital myasthenic syndrome. Most of these mutations replace one DNA building block (nucleotide) in the gene, but other mutations add or delete small sections of DNA.

Description of Glaucoma (cont.) Who is affected? Anyone, but the following have a higher risk: No one in particular except when you are first born. Outlook or quality of life With early treatment, this can be prevented. Without treatment, become unable to use muscle efficiently Treatments include; resting your muscle. There is no cure for epsilon; wait for muscle to be restored Researcher: LH

References NCBI. http://www.ncbi.nlm.nih.gov/protein/AAI57044.1 http://www.dmd.nl/nmdb/home.php?select_db=CHRNE