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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ITCH-20-RE | 20 (40 μL) | 200 μL |  |
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| ITCH-20-OR | 20 (40 μL) | 200 μL |  |
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| ITCH-20-GO | 20 (40 μL) | 200 μL |  |
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| ITCH-20-GR | 20 (40 μL) | 200 μL |  |
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| ITCH-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : ITCH
Gene Name : Itchy E3 ubiquitin protein ligase
Chromosome : CHR 20: 343,632,34-345,117,72
Locus : 20q11.22
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