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    RHAG Rh associated glycoprotein [ Homo sapiens (human) ]

    Gene ID: 6005, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Rhnull phenotype in an Indian patient due to a novel c.1138 + 2 t > a mutation in the RHAG gene.

    Rh(null) phenotype in an Indian patient due to a novel c.1138 + 2 t > a mutation in the RHAG gene.
    Banerjee S, Mathur A, Hurkat N, Chakraborty S, Reddy TV.

    07/23/2024
    Extensive clinical, serologic and molecular studies lead to the first reported Rhmod phenotype in Argentina.

    Extensive clinical, serologic and molecular studies lead to the first reported Rh(mod) phenotype in Argentina.
    Mufarrege N, Franco N, Trucco Boggione C, Arnoni C, de Paula Vendrame T, Bartoli S, Ensinck A, Principi C, Lujan Brajovich M, Mattaloni S, Riquelme B, Biondi C, Castilho L, Cotorruelo C.

    06/26/2021
    The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise to haemolytic disease of the newborn.

    The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise to haemolytic disease of the newborn.
    Tanaka M, Abe T, Minamitani T, Akiba H, Horikawa T, Tobita R, Isa K, Ogasawara K, Takahashi H, Tateyama H, Tone S, Tsumoto K, Yasui T, Kimura T, Fujimura Y, Hirayama F, Tani Y, Takihara Y.

    05/15/2021
    Rhnull phenotype caused by a novel RHAG mutation, c.945+1G>A, in the Japanese population.

    Rh(null) phenotype caused by a novel RHAG mutation, c.945+1G>A, in the Japanese population.
    Ushiki T, Tsuneyama H, Masuko M, Kozakai T, Kasami T, Tanaka T, Uchikawa M, Kitajima T, Kasai E, Komata T, Katagiri T, Kamimura M, Sato K, Fuse I, Ogasawara K, Nakata K.

    06/6/2020
    identified the second double-variant RHAG allele and the first one related to Rhmod phenotype. The novel allele was also confirmed to be heritable by family analyses.

    A novel double-variant RHAG allele leads to Rh(mod) phenotype.
    Xia RW, Xun CZ, Xiang D, Zhang JM, Yang QX, Zhao FY, Wang C, Zhu ZY, Li Q, Ye LY.

    05/2/2020
    A novel RHAG mutation significantly lowers RhAG antigen expression and antigen-mediated agglutination intensity.

    A RHAG point mutation selectively disrupts Rh antigen expression.
    Mu S, Cui Y, Wang W, Wang L, Xu H, Zhu O, Zhu D.

    09/7/2019
    A novel nucleotide deletion in RHAG allele identified in a Chinese Rhnull individual.

    A novel nucleotide deletion in RHAG allele identified in a Chinese Rh(null) individual.
    Tian L, Xu H, Xiao J, Ying B.

    09/8/2018
    Case Report: complex RHAG genotype including a novel de novo mutation associated with overhydrated stomatocytosis.

    Overhydrated stomatocytosis associated with a complex RHAG genotype including a novel de novo mutation.
    Jamwal M, Aggarwal A, Sachdeva MUS, Sharma P, Malhotra P, Maitra A, Das R.

    08/4/2018
    These results indicated that the 540C>A nonsense mutation in RHAG gene caused the regulator type of Rhnull phenotype in a Chinese individual.

    A novel nonsense mutation in RHAG gene responsible for Rh(null) phenotype in a Chinese individual.
    Hou L, Yan QD, Tian L.

    02/24/2018
    novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.310C>T, which leads to a premature stop codon (Gln104Stop).

    Novel RHAG allele encoding the Rh(null) phenotype in Brazil.
    Arnoni CP, Muniz JG, Gazito D, Person Rde M, Vendrame TA, Castilho L, Latini FR.

    01/30/2016
    We characterized ammonia and ammonium (NH3/NH4 (+)) transport by the rhesus-associated (Rh) glycoproteins RhAG, Rhbg, and Rhcg expressed in Xenopus oocytes. We used ion-selective microelectrodes and two-electrode voltage clamp to measure changes in intracellular pH, surface pH, and whole cell currents induced by NH3/NH4 (+) and methyl amine/ammonium (MA/MA(+)).

    Mechanisms of ammonia and ammonium transport by rhesus-associated glycoproteins.
    Caner T, Abdulnour-Nakhoul S, Brown K, Islam MT, Hamm LL, Nakhoul NL., Free PMC Article

    12/10/2015
    A new Rh null allele (RHAG*01N.13) of the regulator type found in a consanguineous French-speaking quebecers'family.

    A new Rhnull allele in francophone Quebecers.
    St-Louis M, Éthier C, Perreault J, Lavoie J.

    09/12/2015
    RhAG, RhBG and RhCG-exhibit significant permeability to NH3 and show for the first time that RhBG and RhCG can conduct CO2.

    Relative CO₂/NH₃ permeabilities of human RhAG, RhBG and RhCG.
    Geyer RR, Parker MD, Toye AM, Boron WF, Musa-Aziz R., Free PMC Article

    06/14/2014
    Data from differentiating cultured erythroid precursor cells suggest that RhAG knockdown abolishes Rh blood group expression (RhoD [ras homolog family member D]; ICAM4 [intercellular adhesion molecule 4]; CD47 Rh-related antigen) in erythroid cells.

    In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders.
    Cambot M, Mazurier C, Canoui-Poitrine F, Hebert N, Picot J, Clay D, Picard V, Ripoche P, Douay L, Dubart-Kupperschmitt A, Cartron JP.

    06/22/2013
    Substitution of GPB with Gp.Mur significantly reduced the expression of Rh antigen and RhAG on the Mi.III(+/+) erythrocyte membrane

    Expression of the Rh/RhAG complex is reduced in Mi.III erythrocytes.
    Hsu K, Lee TY, Chao HP, Chan YS, Lin YC, Lin M.

    08/18/2012
    Results provide new insights into the functional impact of the Phe65Ser mutation in RhAG.

    Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.
    Genetet S, Ripoche P, Picot J, Bigot S, Delaunay J, Armari-Alla C, Colin Y, Mouro-Chanteloup I.

    03/10/2012
    that the 672C>A missense mutation in the RHAG gene could result in Rh(null) of the regulator type, and the single-amino-acid change (Ser to Arg) might be critical for assembly of the Rh antigen complex within the membrane

    A family study of the Chinese Rhnull individual of the regulator type: a novel single missense mutation identified in RHAG gene.
    Tian L, Song N, Yao ZQ, Huang M, Hou L.

    02/4/2012
    The results provide new insight into RhAG stomatocytosis mutant F65S as a combined loss-of-function/gain-of-function mutation for methylammonium/methylammonium+ transport

    Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.
    Stewart AK, Shmukler BE, Vandorpe DH, Rivera A, Heneghan JF, Li X, Hsu A, Karpatkin M, O'Neill AF, Bauer DE, Heeney MM, John K, Kuypers FA, Gallagher PG, Lux SE, Brugnara C, Westhoff CM, Alper SL., Free PMC Article

    01/21/2012
    gas channels exhibit selectivity for CO(2) vs. NH(3) permeability, demonstrating the sequence AQP4 congruent with AQP5 > AQP1 > AmtB > RhAG.

    Relative CO2/NH3 selectivities of AQP1, AQP4, AQP5, AmtB, and RhAG.
    Musa-Aziz R, Chen LM, Pelletier MF, Boron WF., Free PMC Article

    01/21/2010
    Reduced amounts of Rh-associated glycoprotein is associated with overhydrated hereditary stomatocytosis.

    The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein.
    Bruce LJ, Guizouarn H, Burton NM, Gabillat N, Poole J, Flatt JF, Brady RL, Borgese F, Delaunay J, Stewart GW.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)

    Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.
    Norberg A, Forsgren L, Holmberg D, Holmberg M, Norberg A, Forsgren L, Holmberg D, Holmberg M.

    03/13/2008
    Rh protein, presumably the Rh-associated glycoprotein RhAG, possesses a gas channel that allows passage of CO2 in addition to NH3

    RhAG protein of the Rhesus complex is a CO2 channel in the human red cell membrane.
    Endeward V, Cartron JP, Ripoche P, Gros G.

    01/21/2010
    The combination of these polymorphisms could not be found in any control individuals, suggesting that they might be involved in genetic predisposition to migraine in this family.

    Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.
    Norberg A, Forsgren L, Holmberg D, Holmberg M, Norberg A, Forsgren L, Holmberg D, Holmberg M.

    01/21/2010
    Cell-surface expression of RhD blood group polypeptide is posttranscriptionally regulated by the RhAG glycoprotein.

    Cell-surface expression of RhD blood group polypeptide is posttranscriptionally regulated by the RhAG glycoprotein.
    Mouro-Chanteloup I, D'Ambrosio AM, Gane P, Le Van Kim C, Raynal V, Dhermy D, Cartron JP, Colin Y.

    01/21/2010
    RhAG facilitates CH(3)NH(2)/NH(3) movement across the RBC membrane and represents a potential example of a gas channel in mammalian cells.

    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., Free PMC Article

    01/21/2010
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