Anti-Human HECTD4 Antibody Pair

Product Description: HECT domain E3 ubiquitin protein ligase 4 (HECTD4) is a large enzyme over 4000 amino acids long with multiple isoforms, functioning as an E3 ubiquitin-protein ligase. It facilitates the transfer of ubiquitin from an E2 enzyme to substrate proteins, a key step in ubiquitination that tags proteins for degradation or regulates their activity, thus playing important roles in protein quality control and cellular regulation. HECTD4 belongs to the HECT family characterized by a catalytic HECT domain responsible for its ubiquitin ligase activity. Functionally, it is implicated in diverse cellular processes including glucose homeostasis and protein modification within the endoplasmic reticulum. Clinically, biallelic variants in HECTD4 have been associated with neurodevelopmental disorders overlapping with Angelman syndrome. Such mutations disrupt ubiquitination pathways, leading to impaired protein homeostasis and contributing to the disease phenotype. Protein Function: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates [The Uniprot Consortium]