Recombinant Human ASH2L protein (Tagged)

Supplementary info

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

Activity summary

ASH2L also known as ASH2 is a protein with a mass of approximately 75 kDa. It functions as part of the trithorax group (TrxG) complex specifically the COMPASS-like complex where it plays an important role in histone methylation. This methylation occurs at histone H3 on lysine 4 (H3K4) an important modification for transcriptional activation. ASH2L expresses in various tissues with significant levels in the nucleus due to its involvement in chromatin modification.

Biological function summary

ASH2L participates in the regulation of gene expression. It acts as a core subunit of the SET/MLL family of H3K4 methyltransferases which form part of larger COMPASS-like complexes. These complexes modulate chromatin structure influencing transcriptional activation by methylating histone H3 at lysine 4. This modification is essential for the transition from transcriptional repression to activation during development and cell differentiation. ASH2L's role in these processes highlights its importance in maintaining proper gene expression patterns.

Pathways

ASH2L participates in the Wnt signaling pathway and influences the cell cycle. In the Wnt pathway ASH2L interacts with proteins such as β-catenin to modulate the transcription of target genes. It also affects the methylation status of promoters in various signaling pathways contributing to the regulation of gene expression involved in cell proliferation and differentiation. Additionally ASH2L is functionally connected to other proteins like MLL1 which shares involvement in chromatin remodeling and is important for epigenetic regulation.

Associated diseases and disorders

ASH2L association with cancer and neurodevelopmental disorders is significant. Changes in ASH2L expression or function can lead to dysregulation of gene expression promoting oncogenesis or developmental abnormalities. In some cancers ASH2L's interaction with MLL can result in altered histone marks affecting tumor suppressor or oncogene expression. Besides cancer neurodevelopmental disorders like intellectual disability may have links to ASH2L due to its role in regulating genes involved in brain development. Understanding ASH2L's interactions and dysfunctions in these contexts provides insight into potential therapeutic approaches.