RHD (gene)

Rh blood group, D antigen also known as Rh polypeptide 1 (RhPI) or cluster of differentiation 240D (CD240D) is a is_associated_with::protein that in humans is encoded by the RHD is_associated_with::gene.

The RHD gene codes for the RhD is_associated_with::erythrocyte is_associated_with::membrane protein that is the Rh factor is_associated_with::antigen of the is_associated_with::Rh blood group system. RHD has sequence similarity to RHCE, RhAG, RhBG, and RhCG and these five genes constitute the Rh family. It was proposed that the is_associated_with::erythrocyte Rh complex is a heterotrimer of RhAG, RhD, and RhCE protein subunits. RhAG is a functional is_associated_with::ammonia transporter and is required for normal cell surface expression of RhD and RhCE. Patients who lack RhD/RhCE/RhAG on the surface of their erythrocytes have decrease_associated_with_disease::hemolytic anemia. Antibodies to the RhD protein can cause is_associated_with::Rh disease.

Model organisms
is_associated_with::Model organisms have been used in the study of RHD function. A conditional is_associated_with::knockout mouse line, called Rhdtm1a(EUCOMM)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on is_associated_with::mutant mice and one significant abnormality was observed: is_associated_with::homozygous mutant males had a decrease in mean corpuscular is_associated_with::haemoglobin.