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 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. A mutation in this gene results in amorph-type Rh-null disease. There are thirteen named isoforms.
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; Multi-pass membrane protein.
Tissue Specificity:
Restricted to tissues or cell lines expressing erythroid characters. Isoform 4g and isoform RhPI-Alpha are expressed in immature erythroblasts but not in mature erythroblasts.
Similarity:
Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
SWISS:
P18577
Gene ID:
6006
Database links:
Entrez Gene: 6006 Human
Omim: 111700 Human
SwissProt: P18577 Human
|
|
