Mutation of HERC2 causes developmental delay with Angelman-like features.

TitleMutation of HERC2 causes developmental delay with Angelman-like features.
Publication TypeJournal Article
Year of Publication2013
AuthorsHarlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJG, Chioza BA, Scheffner M, Rosa JL, Crosby AH
JournalJournal of medical genetics
Volume50
Issue2
Pagination65-73
Date Published2013 Feb
Abstract

Deregulation of the activity of the ubiquitin ligase E6AP (UBE3A) is well recognised to contribute to the development of Angelman syndrome (AS). The ubiquitin ligase HERC2, encoded by the HERC2 gene is thought to be a key regulator of E6AP.

DOI10.1039/c3an36928e
Alternate JournalJ. Med. Genet.