Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)

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R-HSA-5619042
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Homo sapiens
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5/5
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Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)
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Rhesus (Rh) blood group antigens consist of several membrane-associated polypeptides including RHAG, which is required for cell-surface expression of the complex. The Rh(null) phenotype arises from missing or severely deficient Rh antigens and sufferers present a clinical syndrome of varying severity characterised by abnormalities of red cell shape, cation transport and membrane phospholipid organisation. The human gene RHAG encodes a Rhesus blood group family type A glycoprotein (belonging to the SLC42 solute transporter family) which is expressed specifically in erythroid cells. A transport function for RHAG is suggested to mediate ammonium (NH4+) export from these cells and prevent toxic build-up of NH3/NH4+ (Westhoff et al. 2002, Ripoche et al. 2004). Defects in RHAG are the cause of regulator type Rh-null hemolytic anemia (RHN, Rh-deficiency syndrome). RHN is a form of chronic hemolytic anemia (Huang & Ye 2010).
Literature References
PubMed ID Title Journal Year
19953292 The Rh protein family: gene evolution, membrane biology, and disease association

Huang, CH, Ye, M

Cell. Mol. Life Sci. 2010
15572441 Human Rhesus-associated glycoprotein mediates facilitated transport of NH(3) into red blood cells

Ripoche, P, Bertrand, O, Gane, P, Birkenmeier, C, Colin, Y, Cartron, JP

Proc. Natl. Acad. Sci. U.S.A. 2004
11861637 Identification of the erythrocyte Rh blood group glycoprotein as a mammalian ammonium transporter

Westhoff, CM, Ferreri-Jacobia, M, Mak, DO, Foskett, JK

J Biol Chem 2002
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Disease
Name Identifier Synonyms
Rh deficiency syndrome DOID:0050641
Cross References
Mondo
Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-08-22)
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