HOXD9
Description
The HOXD9 (homeobox D9) is a protein-coding gene located on chromosome 2.
HOXD9 is a human gene belonging to the homeobox gene family, known for their crucial roles in morphogenesis across multicellular organisms. This gene encodes the Hox-D9 protein, a transcription factor involved in regulating gene expression during development. It's located within the HOXD gene cluster on chromosome 2 and is part of a group of genes that dictate the body's shape and structure. Deletions encompassing the entire HOXD cluster or its 5' end have been linked to severe limb and genital abnormalities, highlighting the critical role of this gene in proper development. While the exact function of HOXD9 is not fully understood, its involvement in the HOXD cluster, known for its role in morphogenesis, strongly suggests its importance in establishing the body plan.
HOXD9 is also known as HOX4, HOX4C, Hox-4.3, Hox-5.2.
Associated Diseases
- alopecia
- autosomal recessive spondylocostal dysostosis
- posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- Ehlers-Danlos syndrome, musculocontractural type
