GATA3编码蛋白是一种DNA结合蛋白，通过激活或抑制细胞增殖和分化中重要基因的转录来控制多种组织的发育。GATA3的调节对基因表达具有细胞类型特异性影响，且在造血和非造血组织中均有表达。GATA3的单倍体不足导致常染色体显性HDR（甲状旁腺功能减退、耳聋和肾发育不良）综合征，也称为Barakat综合征。GATA3的表达在小鼠和人正常乳腺上皮的发育中是必需的，在乳腺癌的发病机制中起着重要作用。获得功能性和丧失功能性GATA3突变在乳腺癌中都得到鉴定，表明GATA3具有癌基因和抑癌基因双重功能。

GATA3 is a DNA binding protein that controls the development of diverse tissues by activating or repressing transcription of genes important in cell proliferation and differentiation. GATA3 regulation has cell-type specific effects on gene expression and is expressed in both hematopoietic and non-hematopoietic tissues. Haploinsufficiency of GATA3 results in the autosomal dominant HDR (hypoparathyroidism, deafness, and renaldysplasia) syndrome, also known as Barakat syndrome. GATA3 expression is essential in the development of normal mammary epithelium in mice and humans and plays a key role in the pathogenesis of luminal breast cancer. Gain-of-function and loss-of-function GATA3 mutations have been identified in breast cancer, suggesting that in different contexts GATA3 may function as either an oncogene or tumor suppressor.

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