Gene: FUCA1

Alternate names for this Gene: FUCA

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.11

Description of this Gene: alpha-L-fucosidase 1

Type of Gene: protein-coding

rs118204450 in FUCA1 gene and Fucosidase Deficiency Disease PMID 8401503 1993 Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.

PMID 10094192 1999 Spectrum of mutations in fucosidosis.

PMID 9039984 1997 Fucosidosis: genetic and biochemical analysis of eight cases.

PMID 8504303 1993 Fucosidosis: four new mutations and a new polymorphism.

PMID 2803224 1989 Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.

PMID 1281988 1992 A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient.

PMID 8739734 1995 Mutations in fucosidosis gene: a review.

PMID 9762612 1998 A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene.

PMID 7874128 1994 A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

rs3003333 in FUCA1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.