Chapter 3: Chromosome 3 3 A Cell Nucleus 125,188 bp 1444 aa DNA Sequence Chromosome 125,188 bp Name of Protein 3 Name of Gene Rho FTPase activating protein 31 ARHGAP31 transcription Amino acid sequence mRNA 1444 aa Cytoplasm translation What does this protein make up or do? A Cell Nucleus Condition/Disease Adams-Oliver Syndrome

Description of Adams-Oliver Syndrome Symptoms and characteristics Absent phalanges/bones in the fingers and toes The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome. Hairless scarred patches of scalp It usually appears at birth In some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain. It’s inheritable

Description of Adams-Oliver Syndrome Who is affected? Adams-Oliver syndrome is a rare disorder; its prevalence is unknown. Outlook or quality of life I suppose that if a person was affected that they could lead a very difficult life but, a lot of patients develop neurological conditions that could lead to death but that’s only in some cases. Researcher: ST

References http://chromosome3disorder.com/ http://www.news-medical.net/health/Diseases-Related-to- Chromosome-3.aspx http://ghr.nlm.nih.gov/gene/ARHGAP31 http://en.wikipedia.org/wiki/Chromosome_3_(human) http://www.ncbi.nlm.nih.gov/books/NBK22266/