FCSK

Chr 16AR

fucose kinase

Also known as: 1110046B12Rik, CDGF2, FUK

NCBI Gene: 197258 ENSG00000157353 OMIM: 608675

The protein catalyzes the phosphorylation of L-fucose to beta-L-fucose 1-phosphate, representing the first step in fucose utilization for glycoprotein and glycolipid synthesis. Mutations cause congenital disorder of glycosylation with defective fucosylation 2, which follows autosomal recessive inheritance. This gene shows low constraint to loss-of-function variants (LOEUF 1.132), suggesting some tolerance to protein disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.131 OMIM phenotype

Clinical Summary— FCSK

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Gene-Disease Validity (ClinGen)

congenital disorder of glycosylation with defective fucosylation 2 · ARLimited

Limited evidence — not for standalone diagnostic reporting

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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