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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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

Ye, M, Huang, CH

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

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

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

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

J Biol Chem 2002
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Disease
Name Identifier Synonyms
Rh deficiency syndrome DOID:0050641
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GlyCosmos
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