RHAG

Description

The RHAG (Rh associated glycoprotein) is a protein-coding gene located on chromosome 6.

Rh-associated glycoprotein (RHAG) is an ammonia transporter protein that in humans is encoded by the RHAG gene. RHAG has also recently been designated CD241 (cluster of differentiation 241). Mutations in the RHAG gene can cause stomatocytosis.

== Function == The Rh blood group antigens (MIM 111700) are associated with human erythrocyte membrane proteins of approximately 30 kD, the so-called Rh30 polypeptides. Heterogeneously glycosylated membrane proteins of 50 and 45 kD, the Rh50 glycoproteins, are coprecipitated with the Rh30 polypeptides on immunoprecipitation with anti-Rh-specific mono- and polyclonal antibodies. The Rh antigens appear to exist as a multisubunit complex of CD47 (MIM 601028), LW (MIM 111250), glycophorin B (MIM 111740), and play a critical role in the Rh50 glycoprotein [supplied by OMIM].

== Interactions == RHAG has been shown to interact with ANK1.

== See also == Rh deficiency syndrome

== References ==

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

RHAG is a component of the ankyrin-1 complex, a multiprotein complex involved in maintaining the shape and stability of the red blood cell membrane. It forms a heterotrimer with RHCE, with the structure (RHAG)2(RHCE). This complex transports ammonium and methylammonium, in both their neutral and ionic forms, across the red blood cell membrane. The transport of NH4+ is electrogenic, masking the NH3 transport. RHAG may also act as a CO2 channel. In vitro studies have shown that RHAG can leak monovalent cations. In red blood cells, RHAG regulates the expression of RHD on the membrane and is associated with rhesus blood group antigen expression.

RHAG is also known as CD241, OHS, OHST, RH2, RH50A, RHNR, Rh50, Rh50GP, SLC42A1.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing