MSX1 : msh homeobox 1
Description
The MSX1 (msh homeobox 1) is a protein-coding gene located on chromosome 4.
The MSX1 gene provides instructions for making a protein that regulates the activity of other genes. This gene is critical for the normal development of the teeth and other structures in the mouth. It may also be important for the development of fingernails and toenails.
MSX1 acts as a transcriptional repressor, capable of auto-inactivation. It binds to specific DNA sequences in gene promoters to regulate the expression of target genes. MSX1 represses the transcription of genes involved in the differentiation of muscle cells and other tissues, including genes involved in tooth development. It also plays a role in regulating the development of bones, nails, and other structures. MSX1 interacts with other proteins, including CREBBP/CBP, TBP, SP1, EHMT2/G9a, EHMT1/GLP, and PIAS1, to regulate its activity.
MSX1 is also known as ECTD3, HOX7, HYD1, STHAG1.
Associated Diseases
- Oligodontia
- Isolated cleft lip
- Cleft lip/palate
- Tooth agenesis, selective, 1
- Hypodontia-dysplasia of nails syndrome
- Witkop syndrome
- Orofacial cleft 5
- Cleft lip and alveolus
- Wolf-Hirschhorn syndrome
