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Aliases for B3GALT6 Gene

Aliases for B3GALT6 Gene

  • Beta-1,3-Galactosyltransferase 6 2 3 3 5
  • UDP-Gal:BetaGal Beta 1,3-Galactosyltransferase Polypeptide 6 2 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 6 2 3
  • Galactosylxylosylprotein 3-Beta-Galactosyltransferase 3 4
  • UDP-Gal:BetaGal Beta 1,3-Galactosyltransferase 6 2 3
  • Galactosyltransferase II 3 4
  • Beta-1,3-GalTase 6 3 4
  • Beta3Gal-T6 3 4
  • Beta3GalT6 3 4
  • GAG GalTII 3 4
  • Beta-1,3-Galactosyltransferase-6 2
  • EC 2.4.1.134 4
  • EDSSPD2 3
  • SEMDJL1 3
  • EDSP2 3

External Ids for B3GALT6 Gene

Previous GeneCards Identifiers for B3GALT6 Gene

  • GC01P000694
  • GC01P000919
  • GC01P001044
  • GC01P001073
  • GC01P001207
  • GC01P001157
  • GC01P000424

Summaries for B3GALT6 Gene

Entrez Gene Summary for B3GALT6 Gene

  • The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]

GeneCards Summary for B3GALT6 Gene

B3GALT6 (Beta-1,3-Galactosyltransferase 6) is a Protein Coding gene. Diseases associated with B3GALT6 include Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures and Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2. Among its related pathways are heparan sulfate biosynthesis and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity and UDP-galactosyltransferase activity. An important paralog of this gene is B3GALNT2.

UniProtKB/Swiss-Prot for B3GALT6 Gene

  • Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues.

Additional gene information for B3GALT6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GALT6 Gene

Genomics for B3GALT6 Gene

GeneHancer (GH) Regulatory Elements for B3GALT6 Gene

Promoters and enhancers for B3GALT6 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
GH01J001229 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 678.5 -0.9 -927 3.5 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 E2F8 ZNF207 B3GALT6 SDF4 INTS11 ENSG00000240731 ATAD3B LINC00115 SLC35E2A CCNL2 LOC100288379 ENSG00000234396
GH01J001235 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 26 +7.3 7312 7.9 PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF48 GLIS2 KLF7 FOS DEK SDF4 ATAD3B B3GALT6 CCNL2 SLC35E2A LOC100129381 FAAP20 SLC35E2B LOC100288379 INTS11
GH01J001210 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 16.2 -18.6 -18632 7.2 HDGF GLIS2 SCRT2 IKZF2 RUNX3 EGR2 REST ELF1 ZNF623 IKZF1 TNFRSF4 B3GALT6 TTLL10-AS1 TTLL10 LINC01786 UBE2J2 ATAD3B ANKRD65 SDF4 AURKAIP1
GH01J001204 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.4 -25.0 -24983 4.8 HDGF ARNT ZNF133 YY1 GLIS2 FOS RUNX3 YY2 REST TSHZ1 TNFRSF18 CCNL2 ENSG00000240731 LOC100288379 MXRA8 SLC35E2A ANKRD65 ENSG00000230092 VWA1 LOC100129381
GH01J001127 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12 -103.0 -103007 4 FOXA2 ARID4B DMAP1 ZNF48 RAD21 YY1 CREM THAP11 EGR2 MCM3 GC01M001125 SDF4 TTLL10 MXRA8 TTLL10-AS1 ENSG00000230092 B3GALT6 C1QTNF12 UBE2J2 LOC100288379
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B3GALT6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B3GALT6 gene promoter:

Genomic Locations for B3GALT6 Gene

Genomic Locations for B3GALT6 Gene
chr1:1,232,249-1,235,041
(GRCh38/hg38)
Size:
2,793 bases
Orientation:
Plus strand
chr1:1,167,629-1,170,421
(GRCh37/hg19)

Genomic View for B3GALT6 Gene

Genes around B3GALT6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GALT6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GALT6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GALT6 Gene

Proteins for B3GALT6 Gene

  • Protein details for B3GALT6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L58-B3GT6_HUMAN
    Recommended name:
    Beta-1,3-galactosyltransferase 6
    Protein Accession:
    Q96L58
    Secondary Accessions:
    • Q5T7M5

    Protein attributes for B3GALT6 Gene

    Size:
    329 amino acids
    Molecular mass:
    37138 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for B3GALT6 Gene

Post-translational modifications for B3GALT6 Gene

  • Glycosylation at posLast=131131
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GALT6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for B3GALT6 Gene

Domains & Families for B3GALT6 Gene

Gene Families for B3GALT6 Gene

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

Protein Domains for B3GALT6 Gene

Suggested Antigen Peptide Sequences for B3GALT6 Gene

Graphical View of Domain Structure for InterPro Entry

Q96L58

UniProtKB/Swiss-Prot:

B3GT6_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GALT6: view

Function for B3GALT6 Gene

Molecular function for B3GALT6 Gene

UniProtKB/Swiss-Prot Function:
Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein] = UDP + 3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosyl-[protein].

Enzyme Numbers (IUBMB) for B3GALT6 Gene

Phenotypes From GWAS Catalog for B3GALT6 Gene

Gene Ontology (GO) - Molecular Function for B3GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IBA --
GO:0008376 acetylgalactosaminyltransferase activity IBA --
GO:0008378 galactosyltransferase activity IBA,IEA --
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with B3GALT6: view
genes like me logo Genes that share phenotypes with B3GALT6: view

Human Phenotype Ontology for B3GALT6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GALT6

Clone Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for B3GALT6 Gene

Localization for B3GALT6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GALT6 Gene

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

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 B3GALT6 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
mitochondrion 2
plasma membrane 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for B3GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IBA --
GO:0005794 Golgi apparatus IBA,IEA --
GO:0005797 Golgi medial cisterna IEA,IDA 11551958
GO:0016020 membrane HDA,IBA --
genes like me logo Genes that share ontologies with B3GALT6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B3GALT6 Gene

Pathways & Interactions for B3GALT6 Gene

genes like me logo Genes that share pathways with B3GALT6: view

UniProtKB/Swiss-Prot Q96L58-B3GT6_HUMAN

  • Pathway: Glycan metabolism; chondroitin sulfate biosynthesis.
  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.

Gene Ontology (GO) - Biological Process for B3GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process IEA,IMP 11551958
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation IBA --
GO:0015012 heparan sulfate proteoglycan biosynthetic process IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
genes like me logo Genes that share ontologies with B3GALT6: view

No data available for SIGNOR curated interactions for B3GALT6 Gene

Drugs & Compounds for B3GALT6 Gene

(4) Drugs for B3GALT6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0
Chondroitin Nutra 48

(2) Additional Compounds for B3GALT6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
heparan sulfate
  • Heparan sulfuric acid
  • Heparan sulphate
  • Heparan sulphuric acid
  • alpha-Idosane
  • Heparan N-sulfate
9050-30-0
Poly-N-acetyllactosamine
  • 2-(acetylamino)-2-Deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-(acetylamino)-2-Deoxy-4-O-beta-D-galactopyranosyl-D-glucose homopolymer
  • N-Acetyl-4-O-beta-D-galactopyranosyl-D-glucosamine
  • N-Acetyl-lactosamine
  • O-beta-D-Galactopyranosyl-(14)-2-deoxy-2-acetamido-D-glucose
82441-98-3
genes like me logo Genes that share compounds with B3GALT6: view

Transcripts for B3GALT6 Gene

mRNA/cDNA for B3GALT6 Gene

(101) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for B3GALT6 Gene

UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GALT6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALT6 Gene

No ASD Table

Relevant External Links for B3GALT6 Gene

GeneLoc Exon Structure for
B3GALT6
ECgene alternative splicing isoforms for
B3GALT6

Expression for B3GALT6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B3GALT6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B3GALT6 Gene

This gene is overexpressed in Bone (30.4) and Lung (29.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B3GALT6 Gene



NURSA nuclear receptor signaling pathways regulating expression of B3GALT6 Gene:

B3GALT6

SOURCE GeneReport for Unigene cluster for B3GALT6 Gene:

Hs.284284

mRNA Expression by UniProt/SwissProt for B3GALT6 Gene:

Q96L58-B3GT6_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for B3GALT6 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GALT6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
  • testicle
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
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with B3GALT6: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for B3GALT6 Gene

Orthologs for B3GALT6 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GALT6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GALT6 34 33
  • 99.19 (n)
OneToOne
dog
(Canis familiaris)
Mammalia B3GALT6 34 33
  • 88.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia B3GALT6 34 33
  • 85.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia B3galt6 16 34 33
  • 82.42 (n)
rat
(Rattus norvegicus)
Mammalia B3galt6 33
  • 79.72 (n)
oppossum
(Monodelphis domestica)
Mammalia B3GALT6 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves B3GALT6 34 33
  • 69.99 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3galt6 33
  • 67.74 (n)
Str.18771 33
zebrafish
(Danio rerio)
Actinopterygii b3galt6 34 33
  • 62.92 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009175 33
  • 56 (n)
fruit fly
(Drosophila melanogaster)
Insecta beta3GalTII 34 33
  • 53.27 (n)
OneToMany
CG8734 35
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea sqv-2 34 33
  • 49.29 (n)
OneToMany
Y110A2AL.14 35
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea B3GALT6 34
  • 41 (a)
OneToOne
Species where no ortholog for B3GALT6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 B3GALT6 Gene

ENSEMBL:
Gene Tree for B3GALT6 (if available)
TreeFam:
Gene Tree for B3GALT6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B3GALT6: view image

Paralogs for B3GALT6 Gene

Paralogs for B3GALT6 Gene

genes like me logo Genes that share paralogs with B3GALT6: view

Variants for B3GALT6 Gene

Sequence variations from dbSNP and Humsavar for B3GALT6 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs397514717 pathogenic, Spondyloepimetaphyseal dysplasia with joint laxity, Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] 1,232,972(+) C/G/T coding_sequence_variant, missense_variant
rs397514718 pathogenic, Spondyloepimetaphyseal dysplasia with joint laxity, Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] 1,232,744(+) G/A coding_sequence_variant, missense_variant
rs397514719 pathogenic, Spondyloepimetaphyseal dysplasia with joint laxity, Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] 1,232,471(+) A/G coding_sequence_variant, missense_variant
rs397514720 pathogenic, Spondyloepimetaphyseal dysplasia with joint laxity, Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] 1,232,478(+) C/T coding_sequence_variant, missense_variant
rs397514721 pathogenic, Ehlers-Danlos syndrome, progeroid type, 2, Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2) [MIM:615349] 1,233,203(+) T/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for B3GALT6 Gene

Variant ID Type Subtype PubMed ID
dgv2n67 CNV gain 20364138
esv33767 CNV loss 17666407
nsv1003578 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1160772 CNV duplication 26073780
nsv455661 CNV loss 19166990
nsv469848 CNV gain 16826518
nsv470680 CNV loss 18288195
nsv482937 CNV loss 15286789
nsv517709 CNV gain+loss 19592680
nsv544947 CNV loss 21841781
nsv544956 CNV loss 21841781
nsv544964 CNV loss 21841781
nsv544965 CNV loss 21841781
nsv821698 CNV gain 20364138
nsv950452 CNV deletion 24416366

Variation tolerance for B3GALT6 Gene

Gene Damage Index Score: 5.33; 70.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B3GALT6 Gene

Human Gene Mutation Database (HGMD)
B3GALT6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GALT6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALT6 Gene

Disorders for B3GALT6 Gene

MalaCards: The human disease database

(7) MalaCards diseases for B3GALT6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

B3GT6_HUMAN
  • Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2) [MIM:615349]: A variant form of Ehlers-Danlos syndrome characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin. {ECO:0000269 PubMed:23664117}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]: A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed. {ECO:0000269 PubMed:23664117, ECO:0000269 PubMed:23664118}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for B3GALT6

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 B3GALT6: view

No data available for Genatlas for B3GALT6 Gene

Publications for B3GALT6 Gene

  1. Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6). (PMID: 11551958) Bai X … Esko JD (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. (PMID: 23664117) Nakajima M … Ikegawa S (American journal of human genetics 2013) 3 4 58
  3. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. (PMID: 23664118) Malfait F … De Paepe A (American journal of human genetics 2013) 3 4 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for B3GALT6 Gene

Sources for B3GALT6 Gene

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