HOXD10
Hoxd10: A Master Regulator of Development and Disease
Description
Hoxd10 is a protein-coding gene that plays a crucial role in embryonic development and adult tissue homeostasis. It belongs to the Hox family of transcription factors, which are responsible for regulating the expression of downstream genes along the anterior-posterior axis of the body.
Hoxd10 is expressed in a specific pattern in the developing embryo, starting from the posterior end and extending towards the anterior. It is involved in the formation of various structures, including the spinal cord, vertebral column, and limbs. In adults, Hoxd10 is expressed in multiple tissues, such as the brain, lung, and intestine, where it regulates tissue-specific gene expression.
Associated Diseases
Mutations in Hoxd10 have been associated with several developmental disorders, including:
- Sacral Agenesis: A congenital condition where the sacral vertebrae are absent or underdeveloped, leading to spinal defects and mobility issues.
- Caudal Regression Syndrome: A rare birth defect characterized by a shortened or absent tailbone and spinal cord abnormalities.
- Ulnar-Mammary Syndrome: A rare genetic disorder that affects the development of the limbs and mammary glands, leading to fused ulnar bones and breast abnormalities.
- Hypospadias: A birth defect in males where the opening of the urethra is located on the underside of the penis instead of at the tip.
Did you Know ?
According to a study published in the journal "Nature Genetics," mutations in Hoxd10 are responsible for approximately 15% of cases of sacral agenesis.
