RHBDF2 Antibody

1. Study identified iRHOM2 as a novel regulator of K16 in humans and mice, with important implications for palmoplantar keratodermas, wound healing, inflammatory skin disease and cancers. PMID: 28128203
2. Uev1A-Ubc13 complex catalyzes lysine63-linked ubiquitination of RHBDF2 to promote TACE maturation. PMID: 29069608
3. The iRhom2 N-terminus stabilizes mature ADAM17 at the cell surface where it cleaves TNF and EGFR in inflammatory and innate immune responses. (Review) PMID: 28815577
4. Tylosis with oesophageal cancer-associated mutations in iRHOM2 cause an increase in the maturation and activity of ADAM17 in epidermal keratinocytes. PMID: 24643277
5. Our analyses suggest that these DNA methylation changes may have a role in the onset of Alzheimer disease given that we observed them in presymptomatic subjects and that six of the validated genes connect to a known susceptibility gene network. PMID: 25129075
6. Identification of a new missense mutation, p.Asp188Asn, segregating with tylosis with esophageal cancer in a Finnish family, and interestingly the detected mutation alters a codon located between the two previously reported mutation sites. PMID: 22638770
7. RHBDF2 and CYGB may play distinctive roles in ovarian cancer and could be added to the growing roster of chromosome 17 genes implicated in this disease. PMID: 22344671
8. The distribution of RHBDF2 in tylotic skin is altered in comparison with that in normal skin. PMID: 22265016

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HGNC: 20788

OMIM: 148500

KEGG: hsa:79651

STRING: 9606.ENSP00000322775

UniGene: Hs.464157