Gene: RHAG

Alternate names for this Gene: CD241|OHS|OHST|RH2|RH50A|RHNR|Rh50|Rh50GP|SLC42A1

Gene Summary: The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.3

Description of this Gene: Rh associated glycoprotein

Type of Gene: protein-coding

rs9357627 in RHAG gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs104893987 in RHAG gene and Rh-Null, Regulator Type PMID 8563755 1996 Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency.

PMID 9454778 1998 A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type.

PMID 9716608 1998 Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment.

PMID 10467273 1999 Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.

rs863225468 in RHAG gene and STOMATOCYTOSIS I PMID 21849667 2011 Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.

PMID 18931342 2009 DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser).

PMID 22012326 2012 Since half of the expressed RhAG in OHSt most probably corresponds to the mutated form of RhAG, as expected from the OHSt heterozygous status, this dramatic decrease can be therefore related to the loss of function of the Phe65Ser-mutated RhAG monomer.

PMID 22012326 2012 Recently, overhydrated hereditary stomatocytosis (OHSt), a rare dominantly inherited hemolytic anemia, was found to be associated with a mutation (Phe65Ser or Ile61Arg) in RHAG.

PMID 18931342 2009 DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser).