FUT1 Chromosome 19
Fucosyltransferase 1 (H blood group)
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What This Gene Does
This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"Fucosyltransferases|Blood group antigens"
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000174951
Associated Conditions (5)
Para-Bombay phenotype
FUT1-related disorder
BOMBAY PHENOTYPE
DIGENIC
Bombay phenotype
Key Variants
RS104894687
Pathogenic
Para-Bombay phenotype, Para-Bombay phenotype
Health Risk
RS104894688
Pathogenic
Para-Bombay phenotype, Para-Bombay phenotype
Health Risk
RS150074056
Pathogenic
Para-Bombay phenotype, Para-Bombay phenotype
Health Risk
RS777455020
Pathogenic
FUT1-related disorder, FUT1-related disorder
Health Risk
RS28934588
Pathogenic; Affects
BOMBAY PHENOTYPE, DIGENIC, Bombay phenotype
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894687 | Health Risk | Pathogenic | Para-Bombay phenotype, Para-Bombay phenotype |
| RS104894688 | Health Risk | Pathogenic | Para-Bombay phenotype, Para-Bombay phenotype |
| RS150074056 | Health Risk | Pathogenic | Para-Bombay phenotype, Para-Bombay phenotype |
| RS777455020 | Health Risk | Pathogenic | FUT1-related disorder, FUT1-related disorder |
| RS28934588 | Health Risk | Pathogenic; Affects | BOMBAY PHENOTYPE, DIGENIC, Bombay phenotype |
| RS104894686 | Trait | Affects | Bombay phenotype, Bombay phenotype |