What does this protein make up or do? Chapdter 20: Chromosome 20 DNA Sequence Chromzosome 18.087 cholinergic receptor, nicotinic,alpha 4 (neuronal Name of Protein chrna4 Name of Gene 20 Amino acid sequence mRNA 214 translation Cytoplasm A Cell Nucleus They are made up of dna tightly call histones What does this protein make up or do? Condition/Disease Ada deficency

Description of ada deficiecncy Symptoms and characteristics The symptoms are The main symptoms of ADA deficiency are pneumonia, chronic diarrhea, and widespread skin rashes. Affected children also grow much more slowly than healthy children and some have developmental delay. Most individuals with ADA deficiency are diagnosed with SCID in the first 6 months of life Normal Vision As viewed by a person with glaucoma Pictures used with permission from URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp

Description of ADA deficiency (cont.) Who is affected? Anyone, but the following have a higher risk: Most individuals with ADA deficiency are diagnosed with SCID in the first 6 months of life. Without treatment, these babies usually do not survive past age 2. In about 10 percent to 15 percent of cases, onset of immune deficiency is delayed to between 6 and 24 months of age (delayed onset) or even until adulthood (late onset)People with a family history of glaucoma The main symptoms of ADA deficiency are pneumonia, chronic diarrhea, and widespread skin rashees Outlook or quality of life Yes there is a treatment, eyes may be protected from serious vision loss Without treatment, these babies usually do not survive past age 2. In about 10 percent to 15 percent of cases, There is no cure for glaucoma; Vision that is lost cannot be restored. Researcher: MCV

References http://ghr.nlm.nih.gov/gene/CHRNA4 . ml http://www.nature.com/ng/journal/v11/n2/abs/ng1095-201.