1. 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

2. 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:

3. 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

4. References http://ghr.nlm.nih.gov/gene/CHRNA4
. ml