ITPKC
inositol-trisphosphate 3-kinase C
Normal Function
Health Conditions Related to Genetic Changes
Kawasaki disease
A variation in the ITPKC gene has been associated with an increased risk of Kawasaki disease, a sudden and time-limited (acute) illness affecting infants and children resulting in prolonged fever, inflammation, and other signs and symptoms. The variation changes a single DNA building block (nucleotide) in a region of the gene known as intron 1. It appears to reduce the efficiency of ITPKC gene transcription, which is the first step in producing the ITPKC enzyme. Researchers suggest that the variation may reduce the amount of ITPKC enzyme and interfere with the body's ability to limit T cell activity, leading to inflammation that damages blood vessels and results in the signs and symptoms of Kawasaki disease.
More About This Health ConditionRelated Conditions
Kawasaki disease
Health Conditions Related to Genetic Changes
A variation in the ITPKC gene has been associated with an increased risk of Kawasaki disease, a sudden and time-limited (acute) illness affecting infants and children resulting in prolonged fever, inflammation, and other signs and symptoms. The variation changes a single DNA building block (nucleotide) in a region of the gene known as intron 1. It appears to reduce the efficiency of ITPKC gene transcription, which is the first step in producing the ITPKC enzyme. Researchers suggest that the variation may reduce the amount of ITPKC enzyme and interfere with the body's ability to limit T cell activity, leading to inflammation that damages blood vessels and results in the signs and symptoms of Kawasaki disease.