RHAG
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Rh-associated glycoprotein (RHAG) is an ammonia transporter protein that in humans is encoded by the RHAG gene.[5][6] RHAG has also recently been designated CD241 (cluster of differentiation 241). Mutations in the RHAG gene can cause stomatocytosis.[7]
| RHAG | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | RHAG, CD241, RH2, RH50A, Rh50, Rh50GP, SLC42A1, OHS, OHST, Rh-associated glycoprotein, Rh associated glycoprotein, RHNR | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 180297; MGI: 1202713; HomoloGene: 68045; GeneCards: RHAG; OMA:RHAG - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
The Rh blood group antigens (MIM 111700) are associated with human erythrocyte membrane proteins of approximately 30 kD, the so-called Rh30 polypeptides. Heterogeneously glycosylated membrane proteins of 50 and 45 kD, the Rh50 glycoproteins, are coprecipitated with the Rh30 polypeptides on immunoprecipitation with anti-Rh-specific mono- and polyclonal antibodies. The Rh antigens appear to exist as a multisubunit complex of CD47 (MIM 601028), LW (MIM 111250), glycophorin B (MIM 111740), and play a critical role in the Rh50 glycoprotein [supplied by OMIM].[6]
Clinical diagnostic
Clinical testing in patient care for RhAG antigens follows published minimum quality and operational requirements,[8] similar to red cell genotyping for any of the other recognized blood group systems. Molecular analysis can identify gene variants (alleles) that may affect RhAG antigens expression on the red cell membrane.
