What does this protein make up or do? Chapter 2: Chromosome 2 DNA Sequence Chromosome Name of Protein 2 Name of Gene AGXT 10375 bp unamed transcription Amino acid sequence mRNA 392aa Cytoplasm translation Nucleus What does this protein make up or do? A Cell Defects in AGXT are the cause of hyperoxaluria primary type 1 primary hyperoxaluria type I

Description of primary hyperoxaluria type I Symptoms and characteristics Primary hyperoxaluria is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria is caused by the shortage (deficiency) of an enzyme that normally prevents the buildup of oxalate. There are two types of primary hyperoxaluria, distinguished by the enzyme that is deficient. People with type 1 primary hyperoxaluria have a shortage of a liver enzyme called alanine-glyoxylate aminotransferase (AGXT). Type 2 primary hyperoxaluria is characterized by a shortage of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR). Normal Vision As viewed by a person with primary hyperoxaluria type I

Description of primary hyperoxaluria type I (cont.) Who is affected? Anyone, but the following have a higher risk: Age at onset of symptoms typically ranges from one to 25 years Approximately 19% of affected individuals present before age four to six months with severe disease, often associated with failure to thrive, nephrocalcinosis, anemia, and metabolic acidosis Approximately 54% of affected individuals present in late childhood or early adolescence, usually with symptomatic nephrolithiasis Outlook or quality of life An 11-year-old girl presented to her local nephrology service in Pakistan with a five-month history of fever, bilateral loin pain, and progressive weight loss. Over the preceding one to two months, she had also developed dysuria and intermittent vomiting. Researcher: TM

References 1. http://ghr.nlm.nih.gov/chromosome/2/show/Genes 2. http://ghr.nlm.nih.gov/chromosome/2/show/Conditions 3. http://ghr.nlm.nih.gov/BrowseConditions 4. http://www.pbs.org/wgbh/evolution/library/07/3/l_073_47.h tml 5. http://www.medicinenet.com/script/main/art.asp?articlekey=3 1326