This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer... See more...

Aliases for FUT8 Gene

Aliases for FUT8 Gene

  • Fucosyltransferase 8 2 3 4 5
  • GDP-L-Fuc:N-Acetyl-Beta-D-Glucosaminide Alpha1,6-Fucosyltransferase 3 4
  • Fucosyltransferase 8 (Alpha (1,6) Fucosyltransferase) 2 3
  • GDP-Fucose--Glycoprotein Fucosyltransferase 3 4
  • Glycoprotein 6-Alpha-L-Fucosyltransferase 3 4
  • Alpha-(1,6)-Fucosyltransferase 3 4
  • Alpha1-6FucT 3 4
  • EC 2.4.1.68 4 52
  • Alpha (1,6) Fucosyltransferase 2
  • CDGF1 3
  • CDGF 3

External Ids for FUT8 Gene

Previous GeneCards Identifiers for FUT8 Gene

  • GC14P063206
  • GC14P059672
  • GC14P063867
  • GC14P064947
  • GC14P065877
  • GC14P046046

Summaries for FUT8 Gene

Entrez Gene Summary for FUT8 Gene

  • This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

GeneCards Summary for FUT8 Gene

FUT8 (Fucosyltransferase 8) is a Protein Coding gene. Diseases associated with FUT8 include Congenital Disorder Of Glycosylation With Defective Fucosylation 1 and Pancreatic Acinar Cell Adenocarcinoma. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and glycoprotein 6-alpha-L-fucosyltransferase activity.

UniProtKB/Swiss-Prot Summary for FUT8 Gene

  • Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.

Gene Wiki entry for FUT8 Gene

Additional gene information for FUT8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FUT8 Gene

Genomics for FUT8 Gene

GeneHancer (GH) Regulatory Elements for FUT8 Gene

Promoters and enhancers for FUT8 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
GH14J065333 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.2 -74.5 -74463 5.2 ZNF217 JUND FOS KLF4 GATAD2B CTBP1 HDAC2 ZNF341 POLR2A BCL11A MIR4708 lnc-MAX-9 FUT8 YBX1P1 LINC02324 lnc-FUT8-4
GH14J065410 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 504.7 +2.9 2882 5.1 ZNF217 EP300 CTCF MYC NRF1 USF1 POLR2G SP1 PHF8 FOS FUT8 FUT8-AS1 lnc-FNTB-4 ZBTB1 RPL21P8 MIR625 ZBTB25
GH14J065297 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 504.1 -109.2 -109191 10 POLR2G SP1 PHB2 EP300 POLR2A FOXA1 RFX1 HES1 RELA CTBP1 FUT8 LINC02324 HSPA2 ZBTB25 lnc-FUT8-4 hsa-miR-5095-133 ENSG00000258760
GH14J065351 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 504.9 -54.6 -54591 9.6 ZNF217 CTCF USF1 JUND FOS POLR2A CUX1 RELA EP300 TRIM22 FUT8 LINC02324 RF00017-1583 lnc-MAX-9 lnc-FUT8-4
GH14J065287 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 500.1 -122.5 -122539 2.4 ZBTB40 CTCF SP1 EP300 POLR2A RELA MEF2C TRIM22 BCL11A TCF12 FUT8 RF00017-1582 lnc-MAX-8 ENSG00000258760
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FUT8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FUT8

Top Transcription factor binding sites by QIAGEN in the FUT8 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-2
  • POU3F1

Genomic Locations for FUT8 Gene

Genomic Locations for FUT8 Gene
chr14:65,410,592-65,744,121
(GRCh38/hg38)
Size:
333,530 bases
Orientation:
Plus strand
chr14:65,877,310-66,210,839
(GRCh37/hg19)
Size:
333,530 bases
Orientation:
Plus strand

Genomic View for FUT8 Gene

Genes around FUT8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FUT8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FUT8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FUT8 Gene

Proteins for FUT8 Gene

  • Protein details for FUT8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYC5-FUT8_HUMAN
    Recommended name:
    Alpha-(1,6)-fucosyltransferase
    Protein Accession:
    Q9BYC5
    Secondary Accessions:
    • B4DFS7
    • G3V5N0
    • O00235
    • Q8IUA5
    • Q9BYC6
    • Q9P2U5
    • Q9P2U6

    Protein attributes for FUT8 Gene

    Size:
    575 amino acids
    Molecular mass:
    66516 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 4]: Seems to be only expressed in retina, inactive as a fucosyltransferase.

    Three dimensional structures from OCA and Proteopedia for FUT8 Gene

    Alternative splice isoforms for FUT8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FUT8 Gene

Selected DME Specific Peptides for FUT8 Gene

Q9BYC5:
  • LEGNELQRHADE
  • GGQNAHN
  • TGHWSGE
  • LRRRIENGAKELWFFLQSELKKLK
  • ETCTDRSG
  • LLKEAKTKY
  • EAAFHPIEEY
  • EIPMEPGDIIGVAGNHWDGY
  • EPGDIIGVAGNHWDGYSKG
  • WTGSWRWIMLILFAWGTLLFYIGGHLVRDNDHPDHS
  • KAKEQIE
  • PRPPYLPLAVPEDLA
  • RVYLATDDP
  • MTDLYYLSQTDGAGDWRE
  • WRYATGGWETVF
  • NKGCGYGCQLHHVVYCF
  • HGDPAVWWVSQFVKYLIRPQPWLEKEIEE

Post-translational modifications for FUT8 Gene

Domains & Families for FUT8 Gene

Gene Families for FUT8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FUT8 Gene

Suggested Antigen Peptide Sequences for FUT8 Gene

GenScript: Design optimal peptide antigens:
  • FUT8 protein (A5PLL2_HUMAN)
  • Glycoprotein 6-alpha-L-fucosyltransferase (FUT8_HUMAN)
  • Alpha-(1,6)-fucosyltransferase (Q546E0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYC5

UniProtKB/Swiss-Prot:

FUT8_HUMAN :
  • Belongs to the glycosyltransferase 23 family.
Family:
  • Belongs to the glycosyltransferase 23 family.
genes like me logo Genes that share domains with FUT8: view

Function for FUT8 Gene

Molecular function for FUT8 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GDP-beta-L-fucose + N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] = GDP + H(+) + N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAcl-(1->4)-[alpha-L-Fuc-(1->6)]-beta-D-GlcNAc}-L-asparaginyl-[protein]; Xref=Rhea:RHEA:12985, Rhea:RHEA-COMP:13526, Rhea:RHEA-COMP:13532, ChEBI:CHEBI:15378, ChEBI:CHEBI:57273, ChEBI:CHEBI:58189, ChEBI:CHEBI:60651, ChEBI:CHEBI:137207; EC=2.4.1.68; Evidence=. ;.
GENATLAS Biochemistry:
fucosyltransferase,alpha (1,6),8,involved in the biosynthesis of asparagine-linked glycoprotein oligosaccharides

Enzyme Numbers (IUBMB) for FUT8 Gene

Phenotypes From GWAS Catalog for FUT8 Gene

Gene Ontology (GO) - Molecular Function for FUT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0008424 glycoprotein 6-alpha-L-fucosyltransferase activity TAS 11698403
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
genes like me logo Genes that share ontologies with FUT8: view
genes like me logo Genes that share phenotypes with FUT8: view

Human Phenotype Ontology for FUT8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FUT8 Gene

MGI Knock Outs for FUT8:

Animal Model Products

  • Taconic Biosciences Mouse Models for FUT8

CRISPR Products

Clone Products

  • Addgene plasmids for FUT8

No data available for Transcription Factor Targets and HOMER Transcription for FUT8 Gene

Localization for FUT8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FUT8 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Membrane-bound form in trans cisternae of Golgi. {ECO:0000250}.

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 FUT8 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
nucleus 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FUT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus NAS 11698403
GO:0005829 cytosol IDA --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FUT8: view

Pathways & Interactions for FUT8 Gene

genes like me logo Genes that share pathways with FUT8: view

UniProtKB/Swiss-Prot Q9BYC5-FUT8_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for FUT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development NAS 11698403
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IBA,TAS 21873635
GO:0006491 N-glycan processing TAS 11698403
GO:0007179 transforming growth factor beta receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with FUT8: view

No data available for SIGNOR curated interactions for FUT8 Gene

Drugs & Compounds for FUT8 Gene

(2) Drugs for FUT8 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0

(3) Additional Compounds for FUT8 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GDP-L-fucose
  • (6-Deoxy-beta-L-galactopyranosyl) ester
  • GDP Fucose
  • GDP-beta-L-Fucose
  • Guanosine diphosphate fucose
  • Guanosine diphosphofucose
15839-70-0
genes like me logo Genes that share compounds with FUT8: view

Transcripts for FUT8 Gene

mRNA/cDNA for FUT8 Gene

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

CRISPR Products

Clone Products

  • Addgene plasmids for FUT8

Alternative Splicing Database (ASD) splice patterns (SP) for FUT8 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: -
SP6: - -
SP7: - -
SP8: - - -
SP9:

Relevant External Links for FUT8 Gene

GeneLoc Exon Structure for
FUT8

Expression for FUT8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FUT8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FUT8 Gene

This gene is overexpressed in Nasal epithelium (36.1), Breast (12.4), and Bone (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FUT8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FUT8

SOURCE GeneReport for Unigene cluster for FUT8 Gene:

Hs.597649

Evidence on tissue expression from TISSUES for FUT8 Gene

  • Nervous system(4.8)
  • Lung(4.7)
  • Liver(3.3)
  • Pancreas(3.1)
  • Eye(2.7)
  • Stomach(2.5)
  • Skin(2.3)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with FUT8: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FUT8 Gene

Orthologs for FUT8 Gene

This gene was present in the common ancestor of animals.

Orthologs for FUT8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FUT8 31 30
  • 99.83 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 94 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia FUT8 31 30
  • 93.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FUT8 31 30
  • 93.57 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FUT8 31
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fut8 30
  • 92.12 (n)
mouse
(Mus musculus)
Mammalia Fut8 17 31 30
  • 91.77 (n)
chicken
(Gallus gallus)
Aves FUT8 31 30
  • 83.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FUT8 31
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fut8 30
  • 78.03 (n)
Str.230 30
African clawed frog
(Xenopus laevis)
Amphibia fut8-A 30
zebrafish
(Danio rerio)
Actinopterygii FUT8 (2 of 2) 31
  • 76 (a)
OneToMany
fut8a 31 30
  • 71.77 (n)
OneToMany
Dr.5303 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001888 30
  • 53.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta FucT6 31 32 30
  • 52.7 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea fut-8 31 30
  • 50.61 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToOne
Cin.11077 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11077 30
Species where no ortholog for FUT8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 FUT8 Gene

ENSEMBL:
Gene Tree for FUT8 (if available)
TreeFam:
Gene Tree for FUT8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FUT8: view image

Paralogs for FUT8 Gene

No data available for Paralogs for FUT8 Gene

Variants for FUT8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FUT8 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs1297536872 Pathogenic: Congenital disorder of glycosylation with defective fucosylation 1 65,721,948(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1334593208 Pathogenic: Congenital disorder of glycosylation with defective fucosylation 1 65,721,882(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs1460811017 Pathogenic: Congenital disorder of glycosylation with defective fucosylation 1; not provided 65,669,360(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs1555388034 Pathogenic: Congenital disorder of glycosylation with defective fucosylation 1 65,724,328(+) G/T INTRON_VARIANT
rs2229677 Benign: not specified; not provided 65,561,728(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FUT8 Gene

Structural Variations from Database of Genomic Variants (DGV) for FUT8 Gene

Variant ID Type Subtype PubMed ID
esv1385928 CNV deletion 17803354
esv1713819 CNV deletion 17803354
esv2413773 CNV deletion 18987734
esv2659861 CNV deletion 23128226
esv2664690 CNV deletion 23128226
esv2672840 CNV deletion 23128226
esv2677649 CNV deletion 23128226
esv2748779 CNV deletion 23290073
esv2748793 CNV deletion 23290073
esv2748794 CNV deletion 23290073
esv2748795 CNV deletion 23290073
esv2748797 CNV deletion 23290073
esv2748798 CNV deletion 23290073
esv3434438 CNV insertion 20981092
esv3551673 CNV deletion 23714750
esv3551675 CNV deletion 23714750
esv3581230 CNV loss 25503493
esv3581231 CNV loss 25503493
esv3581232 CNV loss 25503493
esv3581233 CNV loss 25503493
esv3634773 CNV loss 21293372
esv3634775 CNV loss 21293372
esv3634776 CNV loss 21293372
nsv1148956 CNV deletion 26484159
nsv456327 CNV loss 19166990
nsv473029 CNV novel sequence insertion 20440878
nsv510639 CNV deletion 20534489
nsv517316 CNV loss 19592680
nsv564951 CNV loss 21841781
nsv7255 OTHER inversion 18451855
nsv832818 CNV gain 17160897
nsv832819 CNV gain 17160897
nsv958781 CNV deletion 24416366
nsv976347 CNV duplication 23825009

Variation tolerance for FUT8 Gene

Residual Variation Intolerance Score: 20.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.29; 81.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FUT8 Gene

Human Gene Mutation Database (HGMD)
FUT8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FUT8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FUT8 Gene

Disorders for FUT8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FUT8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FUT8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FUT8_HUMAN
  • Congenital disorder of glycosylation with defective fucosylation 1 (CDGF1) [MIM:618005]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. {ECO:0000269 PubMed:29304374, ECO:0000269 PubMed:30237576}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FUT8

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 FUT8: view

No data available for Genatlas for FUT8 Gene

Publications for FUT8 Gene

  1. Crystal structure of mammalian alpha1,6-fucosyltransferase, FUT8. (PMID: 17172260) Ihara H … Taniguchi N (Glycobiology 2007) 3 4 23 54
  2. Genomic structure and promoter analysis of the human alpha1, 6-fucosyltransferase gene (FUT8). (PMID: 10814706) Yamaguchi Y … Taniguchi N (Glycobiology 2000) 3 4 23 54
  3. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. (PMID: 29304374) Ng BG … Freeze HH (American journal of human genetics 2018) 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation. (PMID: 21203500) Lauc G … Rudan I (PLoS genetics 2010) 3 41 54

Products for FUT8 Gene

Sources for FUT8 Gene