What does this protein make up or do? Chapter 19: Chromosome 19 DNA Sequence Name of Protein Chromosome 42,822 bp glucose-6-phosphate isomerase 19 Name of Gene GPI transcription Amino acid sequence mRNA 558aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? protein based on its ability to perform Condition/Disease glucose phosphate isomerase deficiency

Description of glucose phosphate isomerase deficiency Symptoms and characteristics Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder.At first, there are no symptoms

Description of glucose phosphate isomerase deficiency Who is affected? Anyone, but the following have a higher risk: About 50 cases have been described in the medical literature. Outlook or quality of life People be getting pale skin, yellow eyes and skin, iron in the blood and intellectual disability and difficulty with coordinating movements. Researcher: HN

References Gene GPI: [online]. 2013 [cited December 12]. Available at URL:http://ghr.nlm.nih.gov/gene/GPI DOCK6[online]. 2014. [cited Janurary 14]. Available at URL: http://ghr.nlm.nih.gov/gene/DOCK6 Chromosome 19: What you should know [online]. 2014. [cited March 16]. Available at URL:http://ghr.nlm.nih.gov/chromosome/19