Official Full Name

itchy E3 ubiquitin protein ligase

Background

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

Synonyms

ITCH; itchy E3 ubiquitin protein ligase; AIF4; AIP4; NAPP1; dJ468O1.1; E3 ubiquitin-protein ligase Itchy homolog; NFE2-associated polypeptide 1; atrophin-1 interacting protein 4; itchy E3 ubiquitin protein ligase homolog; dJ468O1.1 (atrophin 1 interacting protein 4 (AIP4)); itcha