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What does it mean to have STAT3 gain of function disease?

STAT3 gain-of-function disease (also called STAT3 GOF disease) is a rare genetic disorder of the immune system. STAT3 GOF disease is named after the gene that causes it, STAT3 (signal transducer and activator of transcription 3), and the effect caused by mutations in STAT3—gain-of-function, meaning that the gene’s protein becomes overactive.

What is the role of STAT3 in the skeletal system?

In the skeletal system, the STAT3 protein is involved in the formation of specialized cells that build and break down bone tissue. These cells are necessary for the normal development and maintenance of bones. Frank DA. STAT3 as a central mediator of neoplastic cellular transformation.

What are the mutations in the STAT3 gene?

STAT3 mutations unify the pathogenesis of chronic lymphoproliferative disorders of NK cells and T-cell large granular lymphocyte leukemia. Blood. 2012 Oct 11;120 (15):3048-57. doi: 10.1182/blood-2012-06-435297.

What are the functions of the STAT protein?

STAT proteins are called transcription factors on the basis of this action. Through its regulation of gene activity, the STAT3 protein is involved in many cellular functions. It helps control cell growth and division (proliferation), cell movement (migration), and the self-destruction of cells (apoptosis).

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