The MSX1 gene (muscle segment home boc, Drosophila homolog 1) is a protein coding gene located on chromosome 4p16.2.
Mutations in the MSX1 gene can lead to isolated cleft deformities, but can also cause other dismorphic changes. Diseases associated with MSX1 include.
The muscle segment homeobox (MSX1) gene encodes a protein that functions as a transcriptional repressor during embryogenesis. It plays a critical role in the interaction between epithelial and mesenchymal tissues during craniofacial development and acts through interactions with components of the nuclear transcription complex and other homeoproteins. MSX1 may also play a role in limb formation, craniofacial development, especially odontogenesis. It plays a regulatory role in cellular proliferation, differentiation and cell death (Paradowska-Stolarz A 2015). Expression of the encoded protein in the developing nail bed mesenchyme is important for the thickness and integrity of the nail plate.