The other name for GATA3 is GATA Binding Protein 3.
Understanding GATA3: A Key Protein-Coding Gene
GATA3, or GATA Binding Protein 3, is a crucial protein-coding gene involved in various biological processes. As a protein-coding gene, it provides instructions for making proteins essential for cellular function and development.
This gene's importance is underscored by its association with specific health conditions and its involvement in fundamental cellular pathways.
GATA3 Quick Facts
To provide a clear overview, here's a summary of key information about GATA3:
| Aspect | Detail |
|---|---|
| Gene Name | GATA3 |
| Other Name | GATA Binding Protein 3 |
| Gene Type | Protein Coding Gene |
| Associated Diseases | Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome; Hypoparathyroidism-Deafness-Renal Disease Syndrome |
| Related Pathways | Gene expression (Transcription); ESR-mediated signaling |
Associated Health Conditions
Dysfunction or mutations in the GATA3 gene can lead to specific inherited disorders. These conditions often affect multiple organ systems, highlighting the widespread impact of GATA3's function. The diseases associated with GATA3 include:
- Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome (HDR Syndrome): This syndrome is characterized by underactive parathyroid glands (leading to low calcium levels), hearing loss, and kidney abnormalities.
- Hypoparathyroidism-Deafness-Renal Disease Syndrome: Another name for a similar spectrum of symptoms involving the parathyroid glands, hearing, and kidneys.
Role in Biological Pathways
GATA3 plays a significant role in several fundamental biological pathways, which underscores its importance in cellular regulation and development. Its related pathways include:
- Gene expression (Transcription): This indicates GATA3's involvement in the process by which information from a gene is used in the synthesis of a functional gene product, such as a protein. This often implies that GATA3 acts as a transcription factor, controlling which genes are turned on or off.
- ESR-mediated signaling: This refers to pathways influenced by Estrogen Receptors (ESR), suggesting a role for GATA3 in hormone-regulated processes.
Where to Learn More
For those interested in delving deeper into gene specifics and their broader biological implications, comprehensive resources are available. Reputable databases such as GeneCards offer detailed information on human genes, their functions, associated diseases, and related pathways.
