WebNM_001005498.4(RHBDF2):c.151-39G>T AND Palmoplantar keratoderma-esophageal carcinoma syndrome. Clinical significance: Benign (Last evaluated: Nov 7, 2024) WebHuman Specificity Detects huma iRHOM2/RHBDF2 in direct ELISAs and Western blots. Source Monoclonal Mouse IgG 2A Clone # 996308 Purification Protein A or G purified from hybridoma culture supernatant …
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WebRHBDF2 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, RHBDF2 Genome Browser, RHBDF2 References ... Mouse insertional mutagenesis experiments support the designation of RHBDF2 as a cancer causing gene. More information. ... TOC, TOCG, iRhom2, CCDS32743.1, Q6PJF5, ENSG00000129667.12 more. NM_024599.5, … WebJul 4, 2024 · Tylosis with esophageal cancer syndrome (TOC) is a rare autosomal dominant proliferative skin disease caused by missense mutations in the rhomboid 5 homolog 2 (RHBDF2) gene. TOC is characterized by thickening of the skin in the palms and feet and is strongly linked with the development of esophageal squamous cell carcinoma.
WebJan 25, 2013 · iRHOM2, an inactive member of the Rhomboid intramembrane proteinase family, was recently identified as regulator of the TNF-α convertase (TACE) ( 1 – 3 ). TACE is essential for activating the EGFR and for releasing TNF-α ( 4 – 8 ). WebSep 29, 2015 · Key questions include those based around the role for iRhom2, encoded by RHBDF2, in keratinocyte and oesophageal biology. iRhom2 has been shown to regulate the trafficking and activation of ADAM17, a membrane bound sheddase which has been shown to play a pivotal role in the cleavage and release of membrane bound TNFα and EGFR …
WebDec 8, 2024 · The iRhom2 N-terminus stabilizes mature ADAM17 at the cell surface where it cleaves TNF and EGFR in inflammatory and innate immune responses. (Review) results … WebThe RHBDF2 protein plays an important role in the secretion of tumor necrosis factor alpha, and has also been implicated in familial esophageal cancer. [12] It is involved in the …
WebMay 13, 2014 · The rhomboid 5 homolog 2 ( Rhbdf2) gene encodes an inactive rhomboid (iRhom) protease, iRhom2, one of a family of enzymes containing a long cytosolic N …
WebMar 9, 2024 · Inherited gain-of-function mutations in RHBDF2 (encoding iRHOM2) are associated with a hyperproliferative palmoplantar keratoderma and squamous … grace missing wifehttp://www.biopike.com.cn/product/478168.html grace mitchell boyd buchananWebRHBDF2. Dilution： WB,1:2000;WB,1:1000;WB,1:2000;IHC-P,1:25; Purification： Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. Other_name： Inactive rhomboid protein 2, iRhom2, Rhomboid 5 homolog 2, Rhomboid family grace mitchell a storied styleWebcomprehensive hereditary cancer acd, aip, akt1, apc, atm, bap1, bard1, blm, bmpr1a, brca1, brca2, brip1, casr, cdc73, cdh1, cdk4, cdkn1b, cdkn2a, cebpa, chek2, ctrc ... grace missionary baptist church topeka ksWebJan 25, 2013 · iRHOM2, encoded by the gene Rhbdf2, regulates the maturation of the TNF-α convertase (TACE), which controls shedding of TNF-α and its biological activity in vivo. … grace mitchell bobbi dining chairWebPromotes the cell surface stability of iRhom1/RHBDF1 and iRhom2/RHBDF2 and prevents their degradation via the endolysosomal pathway. By acting on iRhoms, involved in ADAM17-mediated shedding of TNF, amphiregulin/AREG, HBEGF and TGFA from the cell surface (PubMed:29897333, PubMed:29897336). grace mitchelsonWebSep 3, 2024 · Members of the rhomboid protein family that are catalytically deficient are known as inactive rhomboids (iRhoms). iRhoms have been implicated in wound healing, … grace missionary church mooresville indiana