RHAG gene

Rh associated glycoprotein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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.[provided by RefSeq, Mar 2009]

From UniProt:

Associated with rhesus blood group antigen expression (PubMed:19744193). May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane (PubMed:11062476, PubMed:11861637). Involved in ammonia transport across the erythrocyte membrane (PubMed:21849667, PubMed:22012326). Seems to act in monovalent cation transport (PubMed:18931342, PubMed:21849667).

From NCBI Gene:

  • Rh-null, regulator type
  • Overhydrated hereditary stomatocytosis

From UniProt:

Regulator type Rh-null hemolytic anemia (RHN): Form of chronic hemolytic anemia in which the red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization. [MIM:268150]

Overhydrated hereditary stomatocytosis (OHST): An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload. [MIM:185000]

Cytogenetic Location: 6p12.3, which is the short (p) arm of chromosome 6 at position 12.3

Molecular Location: base pairs 49,605,175 to 49,636,874 on chromosome 6 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 6p12.3, which is the short (p) arm of chromosome 6 at position 12.3
  • CD241
  • OHS
  • OHST
  • RH2
  • Rh50
  • RH50A
  • Rh50GP
  • RHNR
  • SLC42A1