FUT6 Chromosome 19
Fucosyltransferase 6
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What This Gene Does
The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Fucosyltransferases
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000156413
Associated Conditions (1)
Fucosyltransferase 6 deficiency
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145035679 | Health Risk | Conflicting classifications of pathogenicity | Fucosyltransferase 6 deficiency, Fucosyltransferase 6 deficiency |