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Chapter 18 : Chromosome 18

Chapter 18 : Chromosome 18. 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?.

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Chapter 18 : Chromosome 18

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  1. Chapter 18: Chromosome 18 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 • 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/

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