HOXA11

HOXA11 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 of the limbs and reproductive system.

Structure

The HOXA11 gene is located on the short (p) arm of chromosome 7 at position 15.2. It spans approximately 27 kilobases and consists of two exons. The encoded protein is 410 amino acids long and contains a homeobox DNA-binding domain.

Function

HOXA11 is involved in the regulation of gene expression, morphogenesis, and differentiation. It is essential for the proper development of the limbs and the reproductive system. In the limbs, HOXA11 is required for the formation of the radius and ulna in the forelimb and the tibia and fibula in the hindlimb. In the reproductive system, it is necessary for the development of the uterus and cervix in females and the vas deferens in males.

Clinical significance

Mutations in the HOXA11 gene have been associated with Hand-foot-genital syndrome, a rare disorder characterized by limb malformations and urogenital defects. Additionally, abnormal expression of HOXA11 has been implicated in several types of cancer, including endometrial cancer and ovarian cancer.

See also

• Homeobox
• Transcription factor
• Gene expression
• Morphogenesis
• Differentiation
• Hand-foot-genital syndrome
• Endometrial cancer
• Ovarian cancer

References

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