DMRT3 Gene - Doublesex and mab-3 Related Transcription Factor 3

DMRT3 (Doublesex and mab-3 related transcription factor 3) is a protein-coding gene located on chromosome 9p24.3. It encodes a transcription factor containing a DM domain, which is involved in the development of the spinal cord and the regulation of locomotor circuits. DMRT3 is essential for the proper formation of spinal interneurons and the coordination of limb movements. A specific nonsense mutation (p.Arg312Ter) in horses is associated with the ability to perform alternate gaits, such as pacing. In humans, DMRT3 is implicated in neurodevelopmental processes and has been studied in relation to spinal cord function and disorders.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Spinal cord interneuron development

• Locomotion regulation

The DMRT3 protein is a 472-amino acid transcription factor that contains a DM domain, which is a zinc finger-like DNA-binding motif. It is primarily expressed in the spinal cord and brain, where it regulates the development of spinal interneurons and the coordination of locomotor circuits. The protein binds to specific DNA sequences to modulate gene expression, playing a critical role in the formation of the central pattern generator for locomotion. Mutations, particularly the p.Arg312Ter nonsense variant, lead to loss of function and are associated with altered gait patterns in horses.