RHCE (gene)

RHCE (Rhesus C, E, c and e, blood group complex or Rh blood group, CcEe antigens) is a gene that in humans encodes the RhCcEe antigens of the Rh blood group system. The RHCE gene is located on chromosome 1 (1p36.11-p34.3) and is closely linked to the RHD gene, which encodes the RhD antigen.

Function

The RHCE gene encodes a polypeptide which is a component of the Rh antigen complex. This complex is a part of the red blood cell membrane and plays a crucial role in maintaining the structural integrity of the cell. The Rh antigens are important in blood transfusion and pregnancy, as they can lead to hemolytic disease of the newborn if there is an incompatibility between the Rh antigens of the mother and the fetus.

Genetics

The RHCE gene is highly polymorphic, with numerous alleles encoding different RhCcEe antigens. The most common alleles are the C/c and E/e alleles, which encode the C, c, E, and e antigens, respectively. The presence or absence of these antigens on the red blood cell surface determines an individual's RhCcEe blood type.

Clinical significance

Mutations in the RHCE gene can lead to altered or absent RhCcEe antigens, which can cause hemolytic transfusion reactions or hemolytic disease of the newborn. In addition, certain RHCE alleles are associated with a weakened expression of the D antigen, which can lead to RhD hemolytic disease of the newborn.

See also

• RHD (gene)
• Rh blood group system
• Hemolytic disease of the newborn
• Blood transfusion