Fucosidase, Alpha-L, 1

Alternative Names

  • FUCA1
  • Alpha-L-Fucosidase 1
  • Fucosidase, Alpha-L, Tissue
  • FUCA

Associated Diseases

Fucosidosis
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OMIM Number

612280

NCBI Gene ID

2517

Uniprot ID

P04066

Length

23,256 bases

No. of Exons

10

No. of isoforms

1

Protein Name

Tissue alpha-L-fucosidase

Molecular Mass

53689 Da

Amino Acid Count

466

Genomic Location

chr1:23,845,076-23,868,331

Gene Map Locus
1p36.11

Description

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.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000147.4:c.558dupUnited Arab EmiratesNC_000001.11:g.23863238dupPathogenicFucosidosisNG_013346.1:g.10132dup; NM_000147.4:c.558dup; NP_000138.2:p.Glu187ArgfsTer10
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