Anti-Human HECW2 Polyclonal Antibody

This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants.HECW2 (HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Diseases associated with HECW2 include Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language and Hypotonia. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is HECW1.