ART4 Chromosome 12
ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)
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What This Gene Does
This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Blood group antigens|CD molecules|ADP-ribosyltransferase family"
Locus Type
gene with protein product
Location
12p12.3
Ensembl
ENSG00000111339
Associated Conditions (3)
Blood group
Dombrock system
ART4-related disorder
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS56340844 | Trait | Affects | Blood group, Dombrock system, Blood group |
| RS587777831 | Trait | Affects | Blood group, Dombrock system, Blood group |
| RS587777832 | Trait | Affects | Blood group, Dombrock system, Blood group |
| RS587777833 | Trait | Affects | Blood group, Dombrock system, Blood group |
| RS11276 | Trait | Benign; Affects | Blood group, Dombrock system, ART4-related disorder |