FUCA2

Chr 6

alpha-L-fucosidase 2

Also known as: dJ20N2.5

NCBI Gene: 2519 ENSG00000001036 UniProt: Q9BTY2

The protein functions as a plasma alpha-L-fucosidase that hydrolyzes alpha-1,6-linked fucose from glycoprotein carbohydrate moieties, representing 10-20% of total cellular fucosidase activity. Mutations cause fucosidosis type 2, a lysosomal storage disorder with autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation, consistent with the recessive inheritance pattern of the associated glycosidosis.

ResearchSummary from RefSeq, UniProt

This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (2)