DCHS2 アクチベーター

DCHS2, or Dachsous Cadherin-Related 2, is a protein that in humans is encoded by the DCHS2 gene. It belongs to the cadherin superfamily, a group of proteins known for their roles in cell-cell adhesion, a crucial component of tissue construction and maintenance.The DCHS2 protein is a type of atypical cadherin, which, unlike classical cadherins, does not directly mediate cell-cell adhesion but contributes to various cellular functions and developmental processes. The protein features multiple cadherin repeat domains and a large extracellular region, suggesting a role in cell signaling or recognition.

DCHS2 is most notably identified for its part in the "Fat-Dachsous signaling pathway," a conserved pathway involved in planar cell polarity (PCP) and tissue patterning. PCP refers to the coordination of cell behavior along tissue planes, crucial for various developmental processes, including organ development and neural tube closure.DCHS2 interacts with FAT4, another atypical cadherin, to regulate tissue growth and structure. Mutations in these genes have been associated with Van Maldergem Syndrome 2, a rare genetic disorder characterized by intellectual disability, distinctive facial features, and abnormalities in various organs.