ITCH

ITCH2017-01-03T22:42:15+00:00

ITCH 

ITCH image from New Medical Terms

ITCHing

CELL BIOLOGY, IMMUNOLOGY

The gene on chromosome 20q11.22 that encodes itchy E3 ubiquitin protein ligase (OMIM: 606409, UniProtKB: Q96J02), a member of the Nedd4 family of HECT domain E3 ubiquitin ligases, which transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, targeting specific proteins for lysosomal degradation. The protein product plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and in regulating immune responses.

Molecular pathology Defects of ITCH cause autoimmune disease—multisystem—with facial dysmorphism (aka, SMAD, OMIM:613385). 

Synonyms AIP4, NAPP1, E3 ubiquitin-protein ligase Itchy homolog, EC 6.3.2.-, AIF4, atrophin-1 interacting protein 4 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITCH
http://www.uniprot.org/uniprot/Q96J02

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.