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Article

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.

Human molecular genetics - 1 Aug 2014

Brooke Matthew A, Etheridge Sarah L, Kaplan Nihal, Simpson Charlotte, O'Toole Edel A, Ishida-Yamamoto Akemi, Marches Olivier, Getsios Spiro, Kelsell David P

Abstract excerpt

iRHOM2 is a highly conserved, catalytically inactive member of the Rhomboid family, which has recently been shown to regulate the maturation of the multi-substrate ectodomain sheddase enzyme ADAM17 (TACE) in macrophages. Dominant iRHOM2 mutations are the cause of the inherited cutaneous and oesophageal cancer-susceptibility syndrome tylosis with oesophageal cancer (TOC), suggesting a role for this protein in...

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Identifiers

PMID: 24643277
DOI: 10.1093/hmg/ddu120
PMCID: PMC4110483

Genes

ADAM17
EGF
EGFR

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iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.PMID 24643277Read ↗

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Pathological mutations reveal the key role of the cytosolic iRhom2 N-terminus for phosphorylation-independent 14-3-3 interaction and ADAM17 binding, stability, and activitySemantic proximity Read ↗

Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17.Semantic proximity Read ↗

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