GATA3
GATA3 is a gene that in humans is encoded by the GATA3 gene. GATA3 is a member of the GATA family of transcription factors, which play an essential role in cell differentiation and cell development.
Function[edit | edit source]
The GATA3 gene produces a protein that is a key regulator in the development of the immune system, specifically the T cells. It is also involved in the development and function of several other organ systems, including the mammary gland, kidney, and central nervous system.
Clinical significance[edit | edit source]
Mutations in the GATA3 gene are associated with a variety of medical conditions. These include HDR syndrome, which is characterized by hypoparathyroidism, sensorineural deafness, and renal disease.
In addition, GATA3 is frequently mutated in breast cancer, where it is thought to act as a tumor suppressor gene. It is also implicated in luminal breast cancer, where high levels of GATA3 expression are associated with a better prognosis.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
