HOXC12
HOXC12 is a gene that belongs to the homeobox family of genes. The protein encoded by this gene is a transcription factor that plays a crucial role in the development and growth of various tissues and organs in the body.
Function
The HOXC12 gene is part of the HOX gene family, a group of genes that are essential for the proper development of the body. These genes are responsible for determining the basic structure of an organism, including the formation of the body's major axes and the positioning of its various parts. The HOXC12 gene, in particular, is involved in the development of the limbs and the nervous system.
Structure
The HOXC12 gene is located on chromosome 12, specifically on the long (q) arm at position 13. The gene spans approximately 3,000 base pairs and consists of two exons. The encoded protein is 284 amino acids long.
Clinical Significance
Mutations in the HOXC12 gene have been associated with several medical conditions. For instance, alterations in this gene have been linked to congenital limb deformities and neurological disorders. However, more research is needed to fully understand the role of HOXC12 in these conditions.
Research
Current research is focused on understanding the precise role of HOXC12 in development and disease. This includes studying the gene's function in animal models, as well as investigating its potential as a therapeutic target in conditions such as cancer.
See Also
References
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