HOXD1
Description
The HOXD1 (homeobox D1) is a protein-coding gene located on chromosome 2.
HOXD1 is a human gene that belongs to the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This protein functions as a transcription factor in the nucleus, playing a key role in cell differentiation and limb development. Mutations in this gene are linked to severe developmental defects affecting the anterior-posterior axis of limbs.
HOXD1 is also known as HOX4, HOX4G, Hox-4.7.
Associated Diseases
- cancer
- autosomal recessive spondylocostal dysostosis
- posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- Scheuermann disease
- spondyloepiphyseal dysplasia tarda, Kohn type
- Klippel-Feil syndrome 3, autosomal dominant
