rs2515548629
This variant is located in the ITCH gene.
▶ClinVar annotation
Syndromic multisystem autoimmune disease due to ITCH deficiency
View on ClinVar →About ITCH
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]
View all ITCH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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