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] See more...

Aliases for FUCA1 Gene

Aliases for FUCA1 Gene

  • Alpha-L-Fucosidase 1 2 3 4 5
  • Alpha-L-Fucoside Fucohydrolase 1 3 4
  • Fucosidase, Alpha-L- 1, Tissue 2 3
  • Tissue Alpha-L-Fucosidase 3 4
  • Alpha-L-Fucosidase I 3 4
  • Tissue Fucosidase 2 3
  • A-L-Fucosidase 1 2 3
  • EC 3.2.1.51 4 52
  • I+/--L-Fucosidase 1 3
  • Α-L-Fucosidase 1 2
  • EC 3.2.1 52
  • FUCA 3

External Ids for FUCA1 Gene

Previous GeneCards Identifiers for FUCA1 Gene

  • GC01U990065
  • GC01M023242
  • GC01M023641
  • GC01M023916
  • GC01M024044
  • GC01M024171
  • GC01M022423

Summaries for FUCA1 Gene

Entrez Gene Summary for FUCA1 Gene

  • 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]

GeneCards Summary for FUCA1 Gene

FUCA1 (Alpha-L-Fucosidase 1) is a Protein Coding gene. Diseases associated with FUCA1 include Fucosidosis and Lysosomal Storage Disease. Among its related pathways are Metabolism of proteins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and alpha-L-fucosidase activity. An important paralog of this gene is FUCA2.

UniProtKB/Swiss-Prot Summary for FUCA1 Gene

  • Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.

Gene Wiki entry for FUCA1 Gene

Additional gene information for FUCA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FUCA1 Gene

Genomics for FUCA1 Gene

GeneHancer (GH) Regulatory Elements for FUCA1 Gene

Promoters and enhancers for FUCA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J023867 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 515.7 +0.2 168 2.8 CTCF SIN3A NRF1 POLR2G SP1 PHF8 ZFX ZNF10 POLR2A ZBTB10 FUCA1 SRRM1 KDM1A SRSF10 ZNF436-AS1 LINC01355 HNRNPR piR-57705
GH01J023838 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 27 +29.6 29646 1.4 SP1 NR3C1 MXI1 SIN3A MYC TCF12 KLF9 CEBPB NKRF POLR2A HMGCL LOC105376861 FUCA1 piR-61945-009 MG828730-001
GH01J023907 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.9 -42.6 -42626 6.3 USF1 SP1 EP300 POLR2A RELA TOE1 RCOR1 NFYB KDM4B RBM25 CNR2 FUCA1 NCMAP PNRC2 RPL11 ENSG00000232557 lnc-FUCA1-1
GH01J023809 Enhancer 1.3 Ensembl ENCODE dbSUPER 25.8 +57.8 57768 2.8 CTCF USF1 NCOR1 TCF7 AFF1 TARDBP REST KLF7 TOE1 MYC FUCA1 PITHD1 ELOA-AS1 HMGCL piR-32214-022 piR-48143 MG828730-001
GH01J023796 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.3 +69.0 69032 6.3 HNRNPK EP300 CTCF NRF1 POLR2G USF1 SP1 NCOR1 GTF2E2 PHF8 GALE lnc-HMGCL-1 lnc-LYPLA2-1 FUCA1 lnc-HMGCL-2 piR-48143 HMGCL MG828730-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FUCA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FUCA1

Top Transcription factor binding sites by QIAGEN in the FUCA1 gene promoter:
  • Elk-1
  • FOXO1a
  • FOXO4
  • GATA-1
  • GATA-2
  • GATA-3
  • Nkx5-1
  • Olf-1
  • POU3F1
  • RORalpha1

Genomic Locations for FUCA1 Gene

Genomic Locations for FUCA1 Gene
chr1:23,845,077-23,868,369
(GRCh38/hg38)
Size:
23,293 bases
Orientation:
Minus strand
chr1:24,171,567-24,194,859
(GRCh37/hg19)
Size:
23,293 bases
Orientation:
Minus strand

Genomic View for FUCA1 Gene

Genes around FUCA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FUCA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FUCA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FUCA1 Gene

Proteins for FUCA1 Gene

  • Protein details for FUCA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04066-FUCO_HUMAN
    Recommended name:
    Tissue alpha-L-fucosidase
    Protein Accession:
    P04066
    Secondary Accessions:
    • B2RBG3
    • Q14334
    • Q14335
    • Q3LID0
    • Q8NAC2

    Protein attributes for FUCA1 Gene

    Size:
    466 amino acids
    Molecular mass:
    53689 Da
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=AAA35519.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAA52481.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH17338.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG37210.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAA25646.1; Type=Miscellaneous discrepancy; Note=Translation of X01390 sequence produces a larger peptide than that shown in CAA25646.1.; Evidence={ECO:0000305};

neXtProt entry for FUCA1 Gene

Selected DME Specific Peptides for FUCA1 Gene

P04066:
  • CPDTYWNST
  • RKRNIRYGLYHSL
  • HWGVFSVP
  • YTPDWPSLDSRPLP
  • YKPDLIWSDGEWECPD
  • GKWLSINGEAIYASKPWRVQ
  • NWNSKDV
  • WTIKLTGV
  • WFDEAKFG
  • KHHEGFT
  • DVGPHRDLVGELG
  • PQFTARFFHP

Post-translational modifications for FUCA1 Gene

  • Glycosylation at Asn241, Asn268, and Asn382
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for FUCA1 Gene

Domains & Families for FUCA1 Gene

Gene Families for FUCA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for FUCA1 Gene

Blocks:
  • Glycoside hydrolase, family 29 (alpha-L-fucosidase)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FUCA1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52780, highly similar to Tissue alpha-L-fucosidase (EC 3.2.1.51) (B5MDC5_HUMAN)
  • Alpha-L-fucoside fucohydrolase 1 (FUCO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04066

UniProtKB/Swiss-Prot:

FUCO_HUMAN :
  • Belongs to the glycosyl hydrolase 29 family.
Family:
  • Belongs to the glycosyl hydrolase 29 family.
genes like me logo Genes that share domains with FUCA1: view

Function for FUCA1 Gene

Molecular function for FUCA1 Gene

UniProtKB/Swiss-Prot Function:
Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an alpha-L-fucoside + H2O = an alcohol + L-fucose; Xref=Rhea:RHEA:12288, ChEBI:CHEBI:2181, ChEBI:CHEBI:15377, ChEBI:CHEBI:28349, ChEBI:CHEBI:30879; EC=3.2.1.51; Evidence=. ;.
GENATLAS Biochemistry:
fucosidase,alpha-L-1,tissue,lysosomal,cleaving fucose from the non reducing and of a variety of oligosaccharides (glycoprotein isoform catabolism)

Enzyme Numbers (IUBMB) for FUCA1 Gene

Phenotypes From GWAS Catalog for FUCA1 Gene

Gene Ontology (GO) - Molecular Function for FUCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004560 alpha-L-fucosidase activity TAS 11698403
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with FUCA1: view
genes like me logo Genes that share phenotypes with FUCA1: view

Human Phenotype Ontology for FUCA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FUCA1 Gene

MGI Knock Outs for FUCA1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FUCA1

No data available for Transcription Factor Targets and HOMER Transcription for FUCA1 Gene

Localization for FUCA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FUCA1 Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FUCA1 gene
Compartment Confidence
extracellular 5
lysosome 5
mitochondrion 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for FUCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm TAS 4074382
GO:0005764 lysosome IBA 21873635
GO:0035578 azurophil granule lumen TAS --
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with FUCA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FUCA1 Gene

Pathways & Interactions for FUCA1 Gene

genes like me logo Genes that share pathways with FUCA1: view

Pathways by source for FUCA1 Gene

Gene Ontology (GO) - Biological Process for FUCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006004 fucose metabolic process IDA,IEA 19666478
GO:0006027 glycosaminoglycan catabolic process NAS 11698403
GO:0008152 metabolic process IEA --
GO:0016139 glycoside catabolic process IBA,IDA 19666478
genes like me logo Genes that share ontologies with FUCA1: view

No data available for SIGNOR curated interactions for FUCA1 Gene

Drugs & Compounds for FUCA1 Gene

(13) Drugs for FUCA1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Rhamnose Experimental, Investigational Pharma 0
Phosphoglycolohydroxamic Acid Experimental Pharma Target 0
Dihydroxyacetone phosphate Investigational Pharma Target 0

(14) Additional Compounds for FUCA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FUCA1: view

Transcripts for FUCA1 Gene

mRNA/cDNA for FUCA1 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FUCA1

Alternative Splicing Database (ASD) splice patterns (SP) for FUCA1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: -
SP2:

Relevant External Links for FUCA1 Gene

GeneLoc Exon Structure for
FUCA1

Expression for FUCA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FUCA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FUCA1 Gene

This gene is overexpressed in Colon - Transverse (x4.0).

Protein differential expression in normal tissues from HIPED for FUCA1 Gene

This gene is overexpressed in Lymph node (10.0) and Salivary gland (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FUCA1 Gene



Protein tissue co-expression partners for FUCA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FUCA1

SOURCE GeneReport for Unigene cluster for FUCA1 Gene:

Hs.370858

Evidence on tissue expression from TISSUES for FUCA1 Gene

  • Blood(5)
  • Liver(4.5)
  • Spleen(4.5)
  • Skin(4.2)
  • Nervous system(4.1)
  • Intestine(4)
  • Kidney(3.1)
  • Lymph node(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FUCA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • sinus
  • skull
  • thyroid
  • tongue
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FUCA1: view

No data available for mRNA Expression by UniProt/SwissProt for FUCA1 Gene

Orthologs for FUCA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FUCA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FUCA1 31 30
  • 93.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FUCA1 31 30
  • 87.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FUCA1 31 30
  • 86.09 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fuca1 17 31 30
  • 83.83 (n)
rat
(Rattus norvegicus)
Mammalia Fuca1 30
  • 83.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FUCA1 31
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 67 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
chicken
(Gallus gallus)
Aves FUCA1 31 30
  • 70.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FUCA1 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fuca1 30
  • 68.22 (n)
Str.16634 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7265 30
zebrafish
(Danio rerio)
Actinopterygii zgc:101116 30
  • 63.62 (n)
fuca1 31
  • 63 (a)
OneToMany
FUCA1 (1 of 2) 31
  • 63 (a)
OneToMany
wufc59h04 30
fruit fly
(Drosophila melanogaster)
Insecta CG6128 32
  • 46 (a)
Fuca 31
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W03G11.3 31 32
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
ManyToMany
CSA.1844 31
  • 48 (a)
ManyToMany
-- 31
  • 47 (a)
ManyToMany
-- 31
  • 43 (a)
ManyToMany
CSA.1698 31
  • 43 (a)
ManyToMany
Species where no ortholog for FUCA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FUCA1 Gene

ENSEMBL:
Gene Tree for FUCA1 (if available)
TreeFam:
Gene Tree for FUCA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FUCA1: view image

Paralogs for FUCA1 Gene

Paralogs for FUCA1 Gene

(1) SIMAP similar genes for FUCA1 Gene using alignment to 1 proteins:

  • FUCO_HUMAN

Pseudogenes.org Pseudogenes for FUCA1 Gene

genes like me logo Genes that share paralogs with FUCA1: view

Variants for FUCA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for FUCA1 Gene

FUCO_HUMAN-P04066
There are two common alleles of FUCA1; FUCA1*1; also known as Fu1; has Arg-281 and FUCA1*2; also known as Fu2; has Gln-281.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FUCA1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
674234 Likely Benign: not provided 23,849,053(-) G/A INTRON_VARIANT
683913 Benign: not provided 23,868,641(-) C/G
683915 Benign: not provided 23,868,408(-) C/A
683925 Benign: not provided 23,865,710(-) A/G INTRON_VARIANT
683932 Benign: not provided 23,854,133(-) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FUCA1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FUCA1 Gene

Variant ID Type Subtype PubMed ID
esv2742159 CNV deletion 23290073
esv2745330 CNV deletion 23290073
esv2745341 CNV deletion 23290073
esv2745352 CNV deletion 23290073
esv2745364 CNV deletion 23290073
esv2745375 CNV deletion 23290073
esv3893081 CNV gain 25118596

Variation tolerance for FUCA1 Gene

Residual Variation Intolerance Score: 48.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.82; 89.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FUCA1 Gene

Human Gene Mutation Database (HGMD)
FUCA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FUCA1

SNP Genotyping and Copy Number Assay Products

Disorders for FUCA1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for FUCA1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fucosidosis
  • alpha-l-fucosidase deficiency
lysosomal storage disease
  • disorder of lysosomal enzyme
angiokeratoma
  • angiokeratoma of skin
mucolipidosis iii alpha/beta
  • ml iii alpha/beta
fabry disease
  • angiokeratoma corporis diffusum
- elite association - COSMIC cancer census association via MalaCards
Search FUCA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FUCO_HUMAN
  • Fucosidosis (FUCA1D) [MIM:230000]: An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. {ECO:0000269 PubMed:7874128, ECO:0000269 PubMed:8504303, ECO:0000269 PubMed:9762612}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for FUCA1 Gene

fucosidosis

Additional Disease Information for FUCA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FUCA1: view

Publications for FUCA1 Gene

  1. Spectrum of mutations in fucosidosis. (PMID: 10094192) Willems PJ … O'Brien JS (European journal of human genetics : EJHG 1999) 3 4 23 54
  2. A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient. (PMID: 7874128) Seo HC … O'Brien JS (Human molecular genetics 1994) 3 4 23 54
  3. Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase. (PMID: 7815431) Cragg H … Swallow D (Journal of medical genetics 1994) 3 4 23 54
  4. Fucosidosis: four new mutations and a new polymorphism. (PMID: 8504303) Seo HC … O'Brien JS (Human molecular genetics 1993) 3 4 23 54
  5. Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family. (PMID: 8399358) Yang M … DiCioccio RA (Biochimica et biophysica acta 1993) 3 4 23 54

Products for FUCA1 Gene

Sources for FUCA1 Gene