Anti-Alx1 antibody [EPR11331]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Alx1 also known as aristaless-related homeobox 1 is a protein functioning as a transcription factor with an approximate mass of 41 kDa. Alx1 plays a critical role in gene expression regulation during embryonic development. It is expressed in various tissues particularly in craniofacial regions and influences the patterning of facial structures. Researchers have identified its involvement in skeletal morphogenesis linking it to the development and differentiation of tissues involved in forming the skeletal framework.

Biological function summary

Alx1 regulates the expression of genes involved in osteogenesis and craniofacial development. It acts as part of a larger transcriptional complex that guides cellular differentiation. This protein demonstrates its function by activating various downstream targets essential for normal bone and cartilage formation. Additionally Alx1's activity in cellular signaling pathways ensures proper tissue patterning during embryogenesis.

Pathways

Alx1 plays a significant role in the Wnt signaling and BMP (Bone Morphogenetic Protein) pathways both paramount to developmental processes. These pathways influence cell growth differentiation and apoptosis. Alx1 interacts with proteins such as β-catenin in the Wnt pathway which are vital for craniofacial formation. In the BMP pathway it interfaces with SMAD proteins facilitating transcription of osteogenic genes.

Associated diseases and disorders

Alx1 mutations have links to facial dysostosis and developmental delays. These conditions stem from misregulated osteogenic pathways where Alx1 functionality is compromised. Alx1 has connections to other proteins like PAX9 which also plays roles in craniofacial development sharing pathways that influence developmental accuracy. Understanding Alx1's function and its associated networks aids in diagnosing and potentially developing treatments for these developmental disorders.