Question

What is the common gamma chain and why do mutations in the gene encoding it cause...

What is the common gamma chain and why do mutations in the gene encoding it cause severe-combined immunodeficiency?

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Answer #1

Comman gamma chain- It is a subunit of interleukin 2 receptor, member of type 1 cytokinie receptor family found on lymphocytes and its gene is present on X chromosome. Main function of comman gamma chain is to be present on surface of cell and binds to cytokine can transmit signal to nucleus.

Mutation in gene for comman gamma chain leads to production of non functional comman gamma chains which leads to abnormal immune cells which dont posses ability to fight infection. Immune system without cells become ineffective which leads to condition of severe combined immunodeficiency. Individuals with such conditions die within months of birth.

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