The Rh blood 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 the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Function:
May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Subcellular Location:
Membrane.
Tissue Specificity:
Restricted to tissues or cell lines expressing erythroid characters.
Similarity:
Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
SWISS:
Q02161
Gene ID:
6007
Database links:
Entrez Gene: 6007 Human
Omim: 11336 Human
SwissProt: Q02161 Human
Unigene: 449968 Human
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