HOXD12

HOXD12, or Homeobox D12, is a protein encoded by the HOXD12 gene in humans. This gene belongs to the homeobox gene family, a highly conserved group of genes that play a critical role in embryonic development. Specifically, HOXD12 is part of the HOXD cluster located on human chromosome 2.

Homeobox genes contain a conserved DNA sequence known as the homeobox, which encodes a 60-amino acid DNA-binding domain called the homeodomain. This homeodomain allows HOXD12, like other homeobox proteins, to act as a transcription factor, regulating the expression of other genes involved in determining body plan and segment identity along the anterior-posterior axis during embryogenesis.

The HOXD genes, including HOXD12, exhibit a phenomenon called collinearity, where their order on the chromosome corresponds to their expression pattern along the developing embryo's body axis. HOXD12 is typically expressed in the more posterior regions of the developing limb and axial skeleton.

Mutations and altered expression of HOXD12 have been associated with various congenital limb malformations, including synpolydactyly (fusion and extra digits) and other skeletal abnormalities affecting the hands and feet. Research continues to investigate the precise mechanisms by which HOXD12 regulates gene expression and contributes to normal limb development, as well as its potential role in other developmental processes and diseases. The protein is a key regulator of gene expression during development, and its interactions with other proteins and signaling pathways are complex and not fully understood.