ART4

Description

The ART4 (ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)) is a protein-coding gene located on chromosome 12.

The ART4 gene in humans encodes Ecto-ADP-ribosyltransferase 4, a protein that has also been designated as CD297 (cluster of differentiation 297). It contains a mono-ADP-ribosylation (ART) motif and is a member of the ADP-ribosyltransferase gene family, though enzymatic activity hasn't been experimentally confirmed. The protein is anchored to the erythrocyte membrane by glycosylphosphatidylinositol and carries antigens of the Dombrock blood group system. Several antigens have been identified, including DOA, DOJO1, DOA-WL, DODOYA, DOB, DOB-WL, DOB-SH-Q149K, DOB-(WL)-I175N, DOHY1, DOHY2, and DO*DOMR. Variations in the gene can lead to adverse transfusion reactions.

ART4 is also known as ARTC4, CD297, DO, DO/ART4, DOK1.

Associated Diseases

• alpha thalassemia-intellectual disability syndrome type 1
• hemoglobin D disease
• Heinz body anemia
• IRIDA syndrome
• delta-beta-thalassemia
• overhydrated hereditary stomatocytosis
• hemoglobin C-beta-thalassemia syndrome
• Rh deficiency syndrome
• pyropoikilocytosis, hereditary