ITCH itchy E3 ubiquitin protein ligase

Gene ID: 83737, updated on 23-Apr-2024
Gene type: protein coding
Also known as: AIF4; AIP4; ADMFD; NAPP1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Syndromic multisystem autoimmune disease due to ITCH deficiency MedGen: C3150649OMIM: 613385GeneReviews: Not available	See labs

Genomic context

Location:: 20q11.22

Sequence:: Chromosome: 20; NC_000020.11 (34363273..34511773)

Total number of exons:: 31

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ITCH variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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