Harmonizome 3.0

itchy E3 ubiquitin protein ligase

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]

ITCH intronic transcript 1

ITCH antisense RNA 1

Hereditary motor and sensory neuropathy V

Neuropathy, hereditary motor and sensory, Russe type

Hereditary sensory neuropathy, type IB

spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)

Neuropathy, hereditary motor and sensory, Okinawa type