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

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

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

References http://ghr.nlm.nih.gov/gene/SMAD4 http://www.ncbi.nlm.nih.gov/protein/AAH02379.1 http://www.ncbi.nlm.nih.gov/gene/4089 http://www.sirweb.org/patients/hereditary-hemorrhagic-telanglectasia/