rs2229677

This variant is located in the FUT8 gene.

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ClinVar annotation

Benign★★★☆

7 submitters3 publications

not specified; not provided; Congenital disorder of glycosylation with defective fucosylation 1; FUT8-related disorder

About FUT8

This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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