FUT9

Chr 6

fucosyltransferase 9

Also known as: Fuc-TIX

NCBI Gene: 10690 ENSG00000172461 UniProt: Q9Y231

The protein is a fucosyltransferase that catalyzes the addition of fucose to carbohydrate structures, generating Lewis X (CD15) antigens essential for cell adhesion and differentiation in developing organ buds and mature granulocytes, and potentially maintaining neuronal stemness in the brain. Currently, no Mendelian diseases have been definitively associated with FUT9 mutations in clinical databases. The gene shows moderate tolerance to loss-of-function variants (LOEUF 0.715), suggesting that complete loss of function may be compatible with normal development.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.71

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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