1. What does this protein make up or do?
Chapter 20: Chromosome 20
Condition/Disease
Alagille Syndrome
DNA Sequence
Chromosome
59,187,298 bp
Name of Protein 20
Name of Gene
“Prion Protein”
AHCY
transcription
Amino acid sequence
mRNA
15,438 aa
translation
Cytoplasm
A Cell
Nucleus
What does this protein make up or do?
This gene is associated with lots of diseases such as Creutzfeldt-Jakob disease.
Include the transport of copper into cells and protection of brain cells (neurons) from injury (neuroprotection).

2. Description of Alagille Syndrome
Symptoms and characteristics
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
Symptoms include a yellowish tinge in the skin, and whites of the eyes (Jaundice), itch skin and deposits of cholesterol in the skin
Some people with Alagille syndrome may have isolated signs of the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. These individuals do not have liver disease or other features typical of the disorder.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell can cause the disorder.
Normal Vision
As viewed by a person with glaucoma
Pictures used with permission from URL:

3. Description of Alagille Syndrome (cont.)
Who is affected? Anyone, but the following have a higher risk:
Newborns
Children between the ages of 4-10
People with a family history of Alagille Syndrome
Outlook or quality of life
Generally, the syndrome involves five distinct findings, including reduced bile flow, congenital heart disease, bone defects, a thickening of a line on the surface of the eye, and particular facial features. Diagnosis can be confirmed by genetic analysis.
increase the flow of bile from the liver, maintaining the child’s normal growth and development pattern, and correcting any of the nutritional deficiencies that often develop.
Researcher: JF

4. References http://ghr.nlm.nih.gov/chromosome/20
65a.html