IRX2
| Symbol | IRX2 |
|---|---|
| HGNC ID | 6119 |
| Alternative symbols | – |
| Entrez Gene | – |
| OMIM | – |
| RefSeq | – |
| UniProt | – |
| Chromosome | 5p15.33 |
| Locus supplementary data | – |
IRX2 is a member of the Iroquois homeobox gene family, which plays a crucial role in the development of various tissues and organs in the body. The IRX2 gene is located on chromosome 5 and is part of a cluster of Iroquois genes that are involved in embryonic development.
Function
The IRX2 gene encodes a transcription factor that is involved in the regulation of gene expression during developmental processes. It is particularly important in the development of the nervous system, heart, and limbs. The protein product of the IRX2 gene binds to specific DNA sequences, thereby controlling the transcription of target genes that are essential for proper organogenesis.
Clinical Significance
Mutations or dysregulation of the IRX2 gene have been associated with various congenital disorders. Research suggests that alterations in IRX2 expression may contribute to developmental abnormalities, although the exact mechanisms remain under investigation. Understanding the role of IRX2 in development could provide insights into the pathogenesis of these conditions and potential therapeutic targets.
Research
Studies on the IRX2 gene continue to explore its function in normal and pathological conditions. Animal models, such as mouse models, are often used to study the effects of IRX2 gene disruption. These studies help elucidate the gene's role in developmental biology and its potential involvement in disease states.
See Also
References
External Links
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Contributors: Prab R. Tumpati, MD