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What is The gene responsible for Ataxia Telangiectasia is located on: and explain in detail?
ATAXIA-TELANGIECTASIA This is a hereditary condition transmitted in the autosomal recessive mode combined immunodeficiency is associated with cerebellar ataxia, telangiectasia, ovarian dysgenesis & chromosomal abnormalities. Genetic features : Gene responsible on chromosome 11 Gene product may play a role in DNA repair ATM gene encodes Atm protein kinase, a member of phosphatidyl inositol 3-kinase family Clinical features :- ataxia & chorioathetoid movements noticed in infancy. Telangiectasia involving the conjuctiva & face appears at 5 or 6 years of age. The disease is progressive, with both neurological defects & immunodeficiency becoming severe with time. Death occurs due to sinopulmonary infection early in life , or malignancy in 2nd or 3rd decade. Ref: Kuby Immunology; 6th edition.