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Aliases for B3GAT3 Gene

Aliases for B3GAT3 Gene

  • Beta-1,3-Glucuronyltransferase 3 2 3 4 5
  • Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 3 2 3
  • Beta-1,3-Glucuronyltransferase 3 (Glucuronosyltransferase I) 2 3
  • UDP-GlcUA:Gal Beta-1,3-Gal-R Glucuronyltransferase 3 4
  • Glucuronosyltransferase I 2 4
  • EC 2.4.1.135 4 61
  • GlcUAT-I 3 4
  • Sqv-8-Like Protein 3
  • GlcAT-I 4
  • GLCATI 3
  • JDSCD 3

External Ids for B3GAT3 Gene

Previous GeneCards Identifiers for B3GAT3 Gene

  • GC11M064895
  • GC11M063958
  • GC11M062158
  • GC11M062139
  • GC11M062429
  • GC11M058711

Summaries for B3GAT3 Gene

Entrez Gene Summary for B3GAT3 Gene

  • The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]

GeneCards Summary for B3GAT3 Gene

B3GAT3 (Beta-1,3-Glucuronyltransferase 3) is a Protein Coding gene. Diseases associated with B3GAT3 include Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, And Congenital Heart Defects. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include glucuronosyltransferase activity and galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. An important paralog of this gene is B3GAT1.

UniProtKB/Swiss-Prot for B3GAT3 Gene

  • Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).

Gene Wiki entry for B3GAT3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GAT3 Gene

Genomics for B3GAT3 Gene

Regulatory Elements for B3GAT3 Gene

Enhancers for B3GAT3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G062838 1.5 ENCODE dbSUPER 14.2 -218.7 -218671 4.8 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 UBXN1 METTL12 TAF6L SNHG1 NXF1 INTS5 LRRN4CL MTA2 B3GAT3 EML3
GH11G061774 1.4 Ensembl ENCODE dbSUPER 14.2 +845.8 845816 3.3 PKNOX1 AGO1 YY1 ZNF766 ZNF143 FOS DEK REST MIER2 CREB3 FADS2 B3GAT3 LOC100129473 MIR611
GH11G062669 1.1 ENCODE 17 -49.3 -49314 4.2 HNRNPUL1 HDGF FOXA2 PKNOX1 CREB3L1 MLX ARNT AGO1 ARID4B SIN3A EML3 STX5 LOC105369332 INTS5 MTA2 NXF1 METTL12 SNHG1 TAF6L TMEM179B
GH11G061799 1.2 dbSUPER 14.2 +822.1 822059 1.9 HDGF FOXA2 CREB3L1 MLX ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 FADS2 B3GAT3 MIR1908
GH11G061680 1.2 ENCODE dbSUPER 14.2 +941.7 941696 1.1 AGO1 ARID4B SIN3A ZNF48 GLIS2 ZNF207 ZNF143 TAF15 MXD4 GTF2B MTA2 TMEM138 B3GAT3 EML3 INTS5 METTL12 UBXN1 DKFZP434K028 DAGLA PIR41833
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around B3GAT3 on UCSC Golden Path with GeneCards custom track

Promoters for B3GAT3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040453 375 1201 HDGF PKNOX1 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for B3GAT3 Gene

Chromosome:
11
Start:
62,615,296 bp from pter
End:
62,622,175 bp from pter
Size:
6,880 bases
Orientation:
Minus strand

Genomic View for B3GAT3 Gene

Genes around B3GAT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GAT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GAT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GAT3 Gene

Proteins for B3GAT3 Gene

  • Protein details for B3GAT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94766-B3GA3_HUMAN
    Recommended name:
    Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
    Protein Accession:
    O94766
    Secondary Accessions:
    • B7ZAB3
    • Q96I06
    • Q9UEP0

    Protein attributes for B3GAT3 Gene

    Size:
    335 amino acids
    Molecular mass:
    37122 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with PXYLP1; the interaction increases the 2-phosphoxylose phosphatase activity of PXYLP1 during completion of linkage region formation in a B3GAT3-mediated manner.

    Three dimensional structures from OCA and Proteopedia for B3GAT3 Gene

    Alternative splice isoforms for B3GAT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B3GAT3 Gene

Selected DME Specific Peptides for B3GAT3 Gene

O94766:
  • PRGVEQRN
  • VWPVGLVGG
  • ELFEEMR
  • VWHTRTEK

Post-translational modifications for B3GAT3 Gene

Other Protein References for B3GAT3 Gene

Antibody Products

  • Abcam antibodies for B3GAT3

Domains & Families for B3GAT3 Gene

Gene Families for B3GAT3 Gene

Protein Domains for B3GAT3 Gene

Graphical View of Domain Structure for InterPro Entry

O94766

UniProtKB/Swiss-Prot:

B3GA3_HUMAN :
  • Belongs to the glycosyltransferase 43 family.
Family:
  • Belongs to the glycosyltransferase 43 family.
genes like me logo Genes that share domains with B3GAT3: view

Function for B3GAT3 Gene

Molecular function for B3GAT3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucuronate + [protein]-3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-serine = UDP + [protein]-3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by EDTA.
UniProtKB/Swiss-Prot Function:
Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).

Enzyme Numbers (IUBMB) for B3GAT3 Gene

Gene Ontology (GO) - Molecular Function for B3GAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24425863
GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity IEA,TAS --
GO:0015020 glucuronosyltransferase activity IDA,IMP 21763480
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with B3GAT3: view
genes like me logo Genes that share phenotypes with B3GAT3: view

Human Phenotype Ontology for B3GAT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for B3GAT3 Gene

MGI Knock Outs for B3GAT3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for B3GAT3 Gene

Localization for B3GAT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GAT3 Gene

Golgi apparatus membrane; Single-pass type II membrane protein. Golgi apparatus, cis-Golgi network.

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 B3GAT3 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for B3GAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA,IEA 21763480
GO:0005801 cis-Golgi network IDA 21763480
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane NAS,IEA 10842173
genes like me logo Genes that share ontologies with B3GAT3: view

Pathways & Interactions for B3GAT3 Gene

genes like me logo Genes that share pathways with B3GAT3: view

UniProtKB/Swiss-Prot O94766-B3GA3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B3GAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IBA --
GO:0006024 glycosaminoglycan biosynthetic process NAS 10842173
GO:0006486 protein glycosylation IEA --
GO:0015012 heparan sulfate proteoglycan biosynthetic process IMP 25893793
GO:0030203 glycosaminoglycan metabolic process TAS --
genes like me logo Genes that share ontologies with B3GAT3: view

No data available for SIGNOR curated interactions for B3GAT3 Gene

Drugs & Compounds for B3GAT3 Gene

(6) Drugs for B3GAT3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
UDP-alpha-D-glucuronic acid Experimental Pharma Target 0
Uridine-5'-Diphosphate Experimental Pharma Target 0
Chondroitin Nutra 44

(7) Additional Compounds for B3GAT3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
heparan sulfate
  • alpha-Idosane
  • Heparan N-sulfate
  • Heparan N-sulphate
  • Heparan sulfate
  • Heparan sulphate
9050-30-0
genes like me logo Genes that share compounds with B3GAT3: view

Transcripts for B3GAT3 Gene

Unigene Clusters for B3GAT3 Gene

Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GAT3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7
SP1:
SP2:
SP3: -
SP4:
SP5: -
SP6: - -
SP7: - - -

Relevant External Links for B3GAT3 Gene

GeneLoc Exon Structure for
B3GAT3
ECgene alternative splicing isoforms for
B3GAT3

Expression for B3GAT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B3GAT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B3GAT3 Gene

This gene is overexpressed in Nasal epithelium (57.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for B3GAT3 Gene



Protein tissue co-expression partners for B3GAT3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of B3GAT3 Gene:

B3GAT3

SOURCE GeneReport for Unigene cluster for B3GAT3 Gene:

Hs.502759

mRNA Expression by UniProt/SwissProt for B3GAT3 Gene:

O94766-B3GA3_HUMAN
Tissue specificity: Ubiquitous (but weakly expressed in all tissues examined).

Evidence on tissue expression from TISSUES for B3GAT3 Gene

  • Nervous system(4.7)
  • Eye(4.3)
  • Liver(4.2)
  • Skin(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GAT3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with B3GAT3: view

Primer Products

No data available for mRNA differential expression in normal tissues for B3GAT3 Gene

Orthologs for B3GAT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GAT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GAT3P1 35
  • 100 (a)
OneToOne
B3GAT3 34
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia B3GAT3 34 35
  • 91.84 (n)
cow
(Bos Taurus)
Mammalia B3GAT3 34 35
  • 91.54 (n)
rat
(Rattus norvegicus)
Mammalia B3gat3 34
  • 88.46 (n)
mouse
(Mus musculus)
Mammalia B3gat3 34 16 35
  • 88.16 (n)
oppossum
(Monodelphis domestica)
Mammalia B3GAT3 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GAT3 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 44 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia B3GAT3 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gat3 34
  • 59.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia b3gat3 34
zebrafish
(Danio rerio)
Actinopterygii b3gat3 34 35
  • 63.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta GlcAT-I 34 35
  • 55.56 (n)
BcDNA:GH05057 36
  • 44 (a)
EG:EG0007.5 36
  • 43 (a)
CG3881 36
  • 41 (a)
GlcAT-S 35
  • 25 (a)
ManyToMany
GlcAT-P 35
  • 23 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002801 34
  • 53.46 (n)
worm
(Caenorhabditis elegans)
Secernentea sqv-8 36 34 35
  • 51.77 (n)
C54C8.5 36
  • 38 (a)
E03H4.12 36
  • 37 (a)
glct-1 35
  • 37 (a)
ManyToMany
glct-4 35
  • 35 (a)
ManyToMany
glct-3 35
  • 34 (a)
ManyToMany
glct-5 35
  • 34 (a)
ManyToMany
glct-6 35
  • 34 (a)
ManyToMany
glct-2 35
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7425 35
  • 44 (a)
ManyToMany
CSA.7080 35
  • 40 (a)
ManyToMany
CSA.7081 35
  • 38 (a)
ManyToMany
Species where no ortholog for B3GAT3 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 B3GAT3 Gene

ENSEMBL:
Gene Tree for B3GAT3 (if available)
TreeFam:
Gene Tree for B3GAT3 (if available)

Paralogs for B3GAT3 Gene

Paralogs for B3GAT3 Gene

(4) SIMAP similar genes for B3GAT3 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for B3GAT3 Gene

genes like me logo Genes that share paralogs with B3GAT3: view

Variants for B3GAT3 Gene

Sequence variations from dbSNP and Humsavar for B3GAT3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs372487178 Pathogenic, Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] 62,616,748(+) CAGGC(C/T)GCCCA nc-transcript-variant, reference, missense
rs387906937 Pathogenic, Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] 62,616,585(-) TCCCC(A/G)GGGCC nc-transcript-variant, reference, missense
VAR_075370 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600]
rs879255269 Pathogenic 62,617,186(-) CACGC(C/T)CAAAG nc-transcript-variant, reference, missense
rs147684283 Uncertain significance 62,615,094(+) ATAGA(C/T)TCAAT intron-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for B3GAT3 Gene

Variant ID Type Subtype PubMed ID
esv3584599 CNV gain 24956385
nsv555174 CNV gain 21841781
nsv825939 CNV gain 20364138
nsv832182 CNV gain+loss 17160897

Variation tolerance for B3GAT3 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B3GAT3 Gene

Human Gene Mutation Database (HGMD)
B3GAT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GAT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GAT3 Gene

Disorders for B3GAT3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for B3GAT3 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
  • larsen syndrome, autosomal recessive, formerly
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

B3GA3_HUMAN
  • Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600]: An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. {ECO:0000269 PubMed:21763480, ECO:0000269 PubMed:24668659, ECO:0000269 PubMed:25893793, ECO:0000269 PubMed:26086840}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for B3GAT3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B3GAT3
genes like me logo Genes that share disorders with B3GAT3: view

No data available for Genatlas for B3GAT3 Gene

Publications for B3GAT3 Gene

  1. Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues. (PMID: 10842173) Ouzzine M. … Fournel-Gigleux S. (J. Biol. Chem. 2000) 3 4 22 64
  2. Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I. (PMID: 10946001) Pedersen L.C. … Negishi M. (J. Biol. Chem. 2000) 3 4 22 64
  3. Characterization of recombinant human glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 10526176) Tone Y. … Sugahara K. (FEBS Lett. 1999) 3 4 22 64
  4. Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 9506957) Kitagawa H. … Sugahara K. (J. Biol. Chem. 1998) 2 3 4 64
  5. Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. (PMID: 25893793) Budde B.S. … Kennerknecht I. (Hum. Genet. 2015) 3 4 64

Products for B3GAT3 Gene

Sources for B3GAT3 Gene

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