1. What does this protein make up or do?
Chapter 1: Chromosome 20
DNA Sequence
Chromosome
15,438bp
Name of Protein 20
Name of Gene
prion protein
PRNP
transcription
Amino acid sequence
mRNA
73 aa
translation
Cytoplasm
What does this protein make up or do?
A Cell
Nucleus
The PRNP gene provides instructions for making a protein called prion protein (PrP), which is active in the brain and several other tissues.
Condition/Disease
Huntington

2. Description of Huntington
Symptoms and characteristics
A particular type of mutation in the PRNP gene has been found to cause signs and symptoms that resemble those of Huntington disease, including uncontrolled movements, emotional problems, and loss of thinking ability.
Involuntary jerking or writhing movements (chorea)
Muscle problems, such as rigidity or muscle contracture (dystonia)
Slow or abnormal eye movements
Impaired gait, posture and balance
Normal Vision
As viewed by a person with glaucoma
Pictures used with permission from URL:

3. Description of Huntington
Who is affected? Anyone, but the following have a higher risk:
HD affects males and females equally and crosses all ethnic and racial boundaries.
Each child of a person with HD has a 50/50 chance of inheriting the fatal gene.
Everyone who carries the gene will develop the disease.
Outlook or quality of life
No treatments can alter the course of Huntington's disease. But medications can lessen some symptoms of movement and psychiatric disorders.
Researcher: AA

4. References