HOXD12
Description
The HOXD12 (homeobox D12) is a protein-coding gene located on chromosome 2.
The HOXD12 gene encodes a protein called Homeobox protein Hox-D12, which belongs to a family of genes crucial for development known as homeobox genes. These genes produce transcription factors, proteins that control the activity of other genes, playing a significant role in shaping the body plan of all multicellular organisms. Humans have four clusters of homeobox genes, including HOXD, located on different chromosomes. The HOXD cluster, where HOXD12 resides, contains several genes arranged in a specific order. Deletions affecting the entire HOXD cluster or its beginning have been linked to severe abnormalities in limbs and genitalia. The mouse version of HOXD12 is known to be involved in the development of the backbone and the formation of forelimbs.
HOXD12 is also known as HOX4H.
Associated Diseases
- brachydactyly type C
- brachydactyly type A2
- brachydactyly type A1
- familial digital arthropathy-brachydactyly
- brachydactyly-syndactyly syndrome
- brachydactyly-elbow wrist dysplasia syndrome
- hallux varus-preaxial polysyndactyly syndrome
- syndactyly type 5
- Thiemann disease, familial form
