DLX3
DLX3 is a gene that encodes a member of a homeobox transcription factor gene family similar to the Drosophila distal-less gene. This family is involved in the regulation of morphogenesis in various animal species. The encoded protein is involved in the development of the placenta and skeletal system, including the skull and teeth. Mutations in this gene are associated with the autosomal dominant conditions Tricho-Dento-Osseous Syndrome (TDO) and Amelogenesis Imperfecta (AI).
Function[edit | edit source]
The DLX3 gene is a member of the DLX gene family, which is involved in embryonic development. The DLX3 protein is a transcription factor that binds to DNA and regulates the expression of other genes. It plays a crucial role in the development of the placenta and the formation of bones and teeth.
Clinical significance[edit | edit source]
Mutations in the DLX3 gene can cause Tricho-Dento-Osseous Syndrome and Amelogenesis Imperfecta. TDO is characterized by abnormalities in hair, teeth, and bone development. AI is a group of rare genetic conditions affecting the structure and appearance of the teeth.
Research[edit | edit source]
Research into the DLX3 gene and its associated proteins continues to provide valuable insights into human development and disease. Understanding the function of DLX3 and its role in disease can potentially lead to new treatments for conditions like TDO and AI.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
