1. 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

2. 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

3. 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

4. References
Gene GPI: [online] [cited December 12]. Available at URL:
DOCK6[online] [cited Janurary 14]. Available at URL:
Chromosome 19: What you should know [online] [cited March 16]. Available at URL: