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

Stable Identifier
R-HSA-5623051
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol, plasma membrane
ReviewStatus
5/5
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Defective RHAG does not transport NH4+ from cytosol to extracellular region (rbc)
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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
Participants
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as an event of
Catalyst Activity

ammonium transmembrane transporter activity of RHAG mutants [plasma membrane]

Physical Entity
RHAG mutants [plasma membrane] (Homo sapiens)
Activity
ammonium transmembrane transporter activity (GO:0008519)
Normal reaction
RHAG transports NH4+ from cytosol to extracellular region (red blood cells) (Homo sapiens)
Functional status

Loss of function of RHAG mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
Rh deficiency syndrome DOID:0050641
Authored
Jassal, B  (2014-09-12)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-09-12)
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