HOXD4
HOXD4 is a gene that belongs to the homeobox family of genes. The protein encoded by this gene is a transcription factor that plays a crucial role in the development of the vertebrate body plan.
Function[edit | edit source]
The HOXD4 gene is part of the HOX gene family, which is a group of genes that are responsible for determining the body plan of an organism during embryonic development. These genes are highly conserved, meaning they have remained relatively unchanged throughout evolution. The HOXD4 gene, like other HOX genes, contains a homeobox DNA sequence that encodes a protein domain known as the homeodomain. This domain allows the protein to bind to specific sequences of DNA and regulate the activity of other genes.
Structure[edit | edit source]
The HOXD4 gene is located on the short (p) arm of chromosome 2 at position 31. The precise location is 2p31.1, from base pair 176,949,811 to base pair 176,952,765. The gene spans approximately 3 kilobases and contains two exons. The encoded protein is 252 amino acids in length.
Clinical significance[edit | edit source]
Mutations in the HOXD4 gene have been associated with several types of cancer, including breast cancer and leukemia. In addition, HOXD4 has been implicated in the development of congenital anomalies of the kidney and urinary tract (CAKUT).
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD