Rh-associated glycoprotein (RHAG) is an
ammonia transporter
Ammonia transportersTC# 1.A.11 are structurally related membrane transport proteins called Amt proteins (ammonia transporters) in bacteria and plants, methylammonium/ammonium permeases (MEPs) in yeast, or Rhesus (Rh) proteins in chordates. In huma ...
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''RHAG''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
RHAG has also recently been designated CD241 (
cluster of differentiation
The cluster of differentiation (also known as cluster of designation or classification determinant and often abbreviated as CD) is a protocol used for the identification and investigation of cell surface molecules providing targets for immunophe ...
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
upplied by OMIM
Interactions
RHAG has been shown to
interact with
ANK1.
See also
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Rh deficiency syndrome
References
Further reading
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External links
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RhAG blood group systemin the
BGMUT
The BGMUT (Blood Group antigen gene MUTation) Database documents allele, allelic variations in the genes encoding for human blood group systems. It was set up in 1999 through an initiative of the Human Genome Variation Society (HGVS). Since 2006, i ...
blood group antigen gene mutation database
Clusters of differentiation
Solute carrier family
Blood antigen systems
{{membrane-protein-stub
Transfusion medicine