| RHCE | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | RHCE, CD240CE, RH, RH30A, RHC, RHE, RHIXB, RHPI, Rh4, RhIVb(J), RhVI, RhVIII, Rh blood group CcEe antigens, RHCe(152N), RHNA | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM:111700;MGI:1202882;HomoloGene:7918;GeneCards:RHCE;OMA:RHCE - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Blood group Rh(CE) polypeptide is aprotein that in humans is encoded by theRHCEgene.[5][6] RHCE has also recently been designatedCD240CE (cluster of differentiation 240CE).
The Rhblood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Alternative splicing of this gene results in four transcript variants encoding four different isoforms.[6]
A recent study in the population of the island ofSardinia shows the association of anoncoding variant in the RHCE gene (rs630337) with an increasederythrocyte sedimentation rate(ESR). This suggest a possible causal effect of thispolymorphism on this inflammatory marker despite not found in coding region of the gene.[7]
This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.
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