HOXD4
Description
The HOXD4 (homeobox D4) is a protein-coding gene located on chromosome 2.
HOXD4 is a gene that encodes a protein called Homeobox protein Hox-D4. It belongs to the homeobox family of genes, known for their crucial role in morphogenesis across all multicellular organisms. This gene is part of the HOXD cluster, located on chromosome 2. Its protein product likely contributes to determining positional values in developing limb buds. Deletions affecting the HOXD cluster, particularly the 5' end, have been linked to serious limb and genital abnormalities. There are various alternatively spliced variants of this gene, but their complete structures haven't been fully determined.
HOXD4 acts as a sequence-specific transcription factor, playing a crucial role in a developmental regulatory system. This system assigns specific positional identities to cells along the anterior-posterior axis of an organism.
HOXD4 is also known as HHO.C13, HOX-5.1, HOX4, HOX4B, Hox-4.2.
Associated Diseases
- endometrial cancer
- autosomal recessive spondylocostal dysostosis
- cancer
- malignant epithelial tumor of ovary
- autosomal dominant spondylocostal dysostosis
- brachyolmia, Maroteaux type
- autosomal dominant brachyolmia
- Klippel-Feil syndrome 3, autosomal dominant
- Becker nevus syndrome
