ACKR1 Chromosome 1
Atypical chemokine receptor 1 (Duffy blood group)
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What This Gene Does
The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Blood group antigens|CD molecules|Atypical chemokine receptors"
Locus Type
gene with protein product
Location
1q23.2
Ensembl
ENSG00000213088
Associated Conditions (5)
DUFFY BLOOD GROUP SYSTEM
FY(a-b-) PHENOTYPE
White blood cell count quantitative trait locus 1
Resistance to Plasmodium vivax infection
Duffy Blood group system
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2814778 | Health Risk | Pathogenic | DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE, White blood cell count quantitative trait locus 1 |
| RS587776507 | Health Risk | Pathogenic | DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE, DUFFY BLOOD GROUP SYSTEM |
| RS118062001 | Trait | Affects | Duffy Blood group system, Duffy Blood group system |