GATA2 or GATA-binding factor 2 is a transcription factor, i.e. a nuclear protein which regulates the expression of genes. [5] . It regulates many genes that are critical for the embryonic development, self-renewal, maintenance, and functionality of blood-forming, lymphatic system-forming, and other tissue-forming stem cells.

GATA2deficiency is a rare disorder of the immune system with wide-ranging effects. First identified in 2011, the disorder is char. - acterized by immunodeficiency, myelodys- plastic syndrome (a condition characterized by ineffective blood cell production), lung dis- ease, and problems of the vascular/lymphatic system. GATA2.

In this review, we will examine the structural characteristics of the GATA2 gene, its physiological and pathological functions, how GATA2 genetic mutations contribute to myeloid neoplasms, and other potential clinical manifestations. Finally, we will provide an overview of current therapeutic options, including recent transplantation strategies.

GATA2 deficiency is a grouping of several disorders caused by common defect, namely, familial or sporadic inactivating mutations in one of the two parental GATA2 genes. Because the gene is haploinsufficient, mutations that cause a reduction in cellular levels of the gene's product, GATA2, are autosomal dominant.

2023年3月30日 · Inherited or de novo germ line heterozygous mutations in the gene encoding the transcription factor GATA2 lead to its deficiency. This results in a constellation of clinical features including nontuberculous mycobacterial, bacterial, fungal, and human papillomavirus infections, lymphedema, pulmonary alveolar proteinosis, and myelodysplasia.

2024年12月25日 · GATA2 (GATA Binding Protein 2) is a Protein Coding gene. Diseases associated with GATA2 include Immunodeficiency 21 and Myelodysplastic Syndrome. Among its related pathways are Gene expression (Transcription) and Assembly of …

GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease predisposing to a range of symptoms, of which myeloid malignancy and immunodeficiency including recurrent infections are most common.

2024年8月22日 · GATA2 deficiency syndrome is a hereditary hematologic malignancy syndrome associated with the GATA2 gene. Learn about GATA2's clinical features and management.

GATA2 deficiency is a disease with a broad spectrum of clinical presentation, ranging from lymphedema, deafness, pulmonary dysfunction to miscarriage and urogenital anomalies, but it is mainly recognized as an immune system and bone marrow disorder. ...

2023年8月25日 · GATA2 is one of six GATA-family transcription factors that act as pioneering transcription factors which facilitate the opening of heterochromatin and the subsequent binding of other transcription factors to induce gene expression from …