Defective RHAG does not transport NH4+ from cytosol to extracellular region (rbc)

Stable Identifier
Reaction [transition]
Homo sapiens
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The human gene RHAG encodes a Rhesus blood group family type A glycoprotein which is expressed specifically in erythroid cells. It belongs to the SLC42 solute transporter family, possesses antigenic properties and is thought to contribute to the stability of the red cell membrane. A transport function for RHAG is suggested to mediate ammonium export from these cells. Defects in RHAG are the cause of regulator type Rh-null hemolytic anemia (RHN, Rh-deficiency syndrome) where the accumulation of NH4+ is thought to contribute to membrane instability. RHN is a form of chronic hemolytic anemia, due to morphologic and functional abnormalities of erythrocytes. Mutations that cause RHN include A373Lfs*15, G280R, G380V, P52Dfs*57, S79N and V270I (Cherif-Zahar et al. 1996, Huang et al. 1999).
Literature References
PubMed ID Title Journal Year
10467273 Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene

Chen, Y, Halverson, G, Liu, Z, Okubo, Y, Cheng, G, Huang, CH, Reid, ME

Am. J. Hematol. 1999
8563755 Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency

Gibbs, B, Gane, P, Raynal, V, Colin, Y, Bailly, P, Mattei, MG, Cherif-Zahar, B, Cartron, JP

Nat. Genet. 1996
Catalyst Activity

ammonium transmembrane transporter activity of RHAG mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of RHAG mutants [plasma membrane]

Name Identifier Synonyms
Rh deficiency syndrome DOID:0050641
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