KEL Chromosome 7
Kell metallo-endopeptidase (Kell blood group)
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What This Gene Does
This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Blood group antigens|CD molecules|M13 metallopeptidases"
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000197993
Associated Conditions (3)
Vein of Galen aneurysmal malformation
Kell blood group system
KELL-NULL PHENOTYPE
Key Variants
RS2116680039
association
Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
Health Risk
RS980885552
association
Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
Health Risk
RS1796939367
Pathogenic
Kell blood group system, Kell blood group system
Health Risk
RS369569464
Pathogenic
KELL-NULL PHENOTYPE, KELL-NULL PHENOTYPE
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2116680039 | Health Risk | association | Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation |
| RS980885552 | Health Risk | association | Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation |
| RS1796939367 | Health Risk | Pathogenic | Kell blood group system, Kell blood group system |
| RS369569464 | Health Risk | Pathogenic | KELL-NULL PHENOTYPE, KELL-NULL PHENOTYPE |
| RS147851584 | Trait | Affects | Kell blood group system, Kell blood group system |
| RS754663945 | Trait | Affects | Kell blood group system, Kell blood group system |
| RS777011308 | Trait | Affects | Kell blood group system, Kell blood group system |