1. Chapter 18: Chromosome 18 18 A Cell Nucleus 54,830 bp 552 aa SMAD4
DNA Sequence
Chromosome
54,830 bp
Name of Protein 18
Name of Gene
SMAD family member 4
SMAD4
transcription
Amino acid sequence
mRNA
552 aa
translation
Cytoplasm
A Cell
Nucleus
What does this protein make up or do?
regulates cell proliferation and the activity of certain genes
Condition/Disease
hereditary hemorrhagic telangiectasia

2. Description of hereditary hemorrhagic telangiectasia
Symptoms and characteristics
Frequent nosebleeds
Bleeding in liver, brain, and lungs also possible
Polyps in gastrointestinal tract

3. Description of hereditary hemorrhagic telangiectasia
Who is affected?
1 in every 5,000 to 10,000 people is affected
Outlook or quality of life
Surgical options are available and without treatment the patient may be at risk of early death.
Researcher: RH

4. References http://ghr.nlm.nih.gov/gene/SMAD4