4 Chapter 4: Chromosome 4 A Cell Nucleus 2,936 604217 aa SLC34A2 DNA Sequence Chromosome 4 2,936 Name of Protein Name of Gene pH-sensitive sodium SLC34A2 transcription Amino acid sequence mRNA 604217 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. Condition/Disease pulmonary alveolar microlithiasis
Description of polycystic kidney disease Symptoms and characteristics Polycystic kidney disease is a genetic disorder characterized by the growth of numerous cysts in the kidneys. Kidney Stones High blood pressue Blood in urine (hematuria) Kidney Stones Kiney Stones in a person
Description of polycystic kidney disease (cont.) Who is affected? Anyone, but the following have a higher risk: Any one Outlook or quality of life Doctors appointments Healthy diets Life expectancy 30 if not healthy 90 if healthy with the dieses. Researcher: HP
References http://www.ncbi.nlm.nih.gov/gene/5311 http://ghr.nlm.nih.gov/condition/polycystic-kidney-disease http://kidney.niddk.nih.gov/KUDiseases/pubs/polycystic/