MSX2 : msh homeobox 2

Description

The MSX2 (msh homeobox 2) is a protein-coding gene located on chromosome 5.

The MSX2 gene provides instructions for producing a protein that is essential for proper development of cells and tissues throughout the body. The MSX2 protein is a transcription factor, which means it attaches to specific regions of DNA and helps control the activity of certain genes. Specifically, it regulates genes involved in cell growth, division, maturation, and survival, ensuring that cells grow and divide at the appropriate times and locations during development. MSX2 is part of the bone morphogenic protein (BMP) signaling pathway, which is involved in cell growth, including the formation of new bone cells. MSX2 appears to be particularly important for the development of the skull.

MSX2 acts as a transcriptional regulator in bone development. It represses the activity of the ALPL promoter, which encodes for the enzyme alkaline phosphatase essential for bone mineralization. MSX2 counteracts the stimulatory effect of the DLX5 protein on ALPL expression during osteoblast differentiation, contributing to the precise regulation of bone formation. MSX2 likely plays a role in overall morphogenesis and might be involved in limb development. In osteoblasts, MSX2 suppresses transcription driven by the osteocalcin FGF response element (OCFRE), indicating its involvement in the complex interplay of growth factors and bone development. MSX2 directly binds to the homeodomain-response element of the ALPL promoter, controlling gene expression.

MSX2 is also known as CRS2, FPP, HOX8, MSH, PFM, PFM1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing