HOXB3

HOXB3 is a gene that belongs to the homeobox family of genes. The protein encoded by this gene is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. This system is also involved in the regulation of the development of a variety of organs and the central nervous system.

Structure

The HOXB3 gene is located on the short (p) arm of chromosome 17 at position 21.32. It spans 2,779 base pairs and is composed of two exons. The encoded protein has a molecular weight of approximately 31 kDa and is composed of 280 amino acids.

Function

The HOXB3 gene is a member of the HOX gene family, which plays a crucial role in morphogenesis during embryonic development. The protein encoded by this gene is a transcription factor that can bind to specific DNA sequences and regulate the expression of other genes. This protein is involved in the development of the pharyngeal arches, which give rise to structures in the head and neck.

Clinical Significance

Mutations in the HOXB3 gene have been associated with various diseases. For example, a mutation in this gene has been linked to hand-foot-genital syndrome, a rare disorder characterized by limb and genital abnormalities. Additionally, overexpression of HOXB3 has been observed in certain types of cancer, including breast cancer and lung cancer, suggesting a potential role in tumorigenesis.

Research

Research on the HOXB3 gene is ongoing, with studies focusing on its role in development and disease. Understanding the function of this gene could lead to new treatments for diseases associated with its mutation or overexpression.

File:HOXB3 gene location on human chromosome 17.png

Location of the HOXB3 gene on human chromosome 17.

See Also

• Homeobox
• Chromosome 17
• Hand-foot-genital syndrome
• Breast cancer
• Lung cancer

References

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