FUCA1

Chr 1

alpha-L-fucosidase 1

Also known as: FUCA

NCBI Gene: 2517 ENSG00000179163 UniProt: P04066

Alpha-L-fucosidase hydrolyzes alpha-1,6-linked fucose from glycoproteins in lysosomes. Mutations cause fucosidosis, an autosomal recessive lysosomal storage disease that typically presents in early childhood with progressive neurodegeneration, coarse facial features, and developmental regression.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFucosidosis

Clinical highlights

Gene-disease validity (ClinGen)

fucosidosis · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.94

LOEUF

LOF

Mechanism· G2P

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GeneReview available — FUCA1