POFUT1

Chr 20AD

protein O-fucosyltransferase 1

Also known as: DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1

NCBI Gene: 23509 ENSG00000101346 UniProt: Q9H488 OMIM: 607491

The POFUT1 protein is a glycosyltransferase that adds fucose to epidermal growth factor-like repeats on cell surface proteins, playing a crucial role in NOTCH signaling pathway regulation. Mutations cause Dowling-Degos disease 2, an autosomal dominant genodermatosis. This gene is highly constrained against loss-of-function mutations (pLI 0.96), indicating that such variants are likely to have significant functional consequences.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Dowling-Degos disease 2MIM #615327

Clinical highlights

Gene-disease validity (ClinGen)

Dowling-Degos disease 2 · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

Multiple*

Mechanism· predicted