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

Stable Identifier
R-HSA-5623051
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
8563755 Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency

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

Nat. Genet. 1996
10467273 Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene

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

Am. J. Hematol. 1999
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
ammonium transmembrane transporter activity of RHAG mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
Rh deficiency syndrome 0050641
Authored
Reviewed
Created
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