| Gene Symbol | B3GALT6 |
| Entrez Gene ID | 126792 |
| Full Name | beta-1,3-galactosyltransferase 6 |
| Synonyms | EDSP2,EDSSPD2,SEMDJL1,beta3GalT6 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. COMPLETENESS: complete on the 3' end. |
| Disorder MIM: | |
| Disorder Html: | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3); Ehlers-Danlos syndrome, progeroid type, 2, 615349 (3) |
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B3GALT6 cDNA ORF clone, Homo sapiens(human)
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Gene
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Clones
gRNAs
The following B3GALT6 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the B3GALT6 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
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Reference Sequences (Refseq)
CloneID OHu18507 Clone ID Related Accession (Same CDS sequence) NM_080605.4 , NM_080605.3 Accession Version NM_080605.4 Latest version! Documents for ORF clone product in default vector Sequence Information ORF Nucleotide Sequence (Length: 990bp)
Protein sequence
SNPVector pcDNA3.1-C-(k)DYK or customized vector 
User ManualClone information Clone Map MSDSTag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags ORF Insert Method CloneEZ™ Seamless cloning technology Insert Structure linear Update Date 1577635200000 Organism Homo sapiens(human) Product beta-1,3-galactosyltransferase 6 Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162741.44. This sequence is a reference standard in the RefSeqGene project. On Jul 30, 2018 this sequence version replaced NM_080605.3. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. ##Evidence-Data-START## Transcript is intronless :: DRR138524.218528.1, DRR138524.201523.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000379198.5/ ENSP00000368496.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.
1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961ATGAAGCTGC TGCGGCGGGC GTGGCGGCGG CGGGCGGCGC TAGGCCTGGG CACGCTGGCG
CTGTGCGGGG CGGCGCTGCT CTACCTGGCG CGCTGCGCGG CCGAGCCCGG GGACCCCAGG
GCGATGTCGG GCCGCAGCCC GCCTCCCCCC GCGCCCGCGC GCGCCGCCGC CTTCCTGGCA
GTGCTGGTGG CCAGCGCGCC CCGCGCCGCC GAGCGCCGCA GCGTGATCCG CAGCACGTGG
CTTGCGCGGC GCGGGGCCCC GGGCGACGTG TGGGCGCGCT TTGCCGTGGG CACGGCCGGC
CTGGGCGCCG AGGAGCGGCG CGCCCTGGAG CGGGAGCAGG CGCGGCACGG GGACCTGCTG
CTGCTGCCCG CGCTGCGCGA CGCCTACGAA AACCTCACGG CCAAGGTGCT GGCCATGCTG
GCCTGGCTGG ACGAGCACGT GGCCTTCGAG TTCGTGCTCA AGGCGGACGA CGACTCCTTC
GCGCGGCTGG ACGCGCTGCT GGCCGAGCTG CGCGCCCGCG AGCCCGCGCG CCGCCGCCGC
CTCTACTGGG GCTTCTTCTC GGGCCGCGGC CGCGTCAAGC CGGGGGGGCG CTGGCGCGAG
GCCGCCTGGC AACTCTGCGA CTACTACCTG CCCTACGCGC TGGGCGGCGG CTACGTGCTC
TCGGCCGACC TGGTGCACTA CCTGCGCCTC AGCCGCGACT ACCTGCGCGC CTGGCACAGC
GAGGACGTGT CTCTGGGCGC CTGGCTGGCG CCGGTGGACG TCCAGCGGGA GCACGACCCG
CGCTTCGACA CCGAATACCG GTCCCGCGGC TGCAGCAACC AGTACCTGGT GACGCACAAG
CAGAGCCTGG AGGACATGCT GGAGAAGCAC GCGACGCTGG CGCGCGAGGG CCGCCTGTGC
AAGCGCGAGG TGCAGCTGCG CCTGTCCTAC GTGTACGACT GGTCCGCGCC GCCCTCGCAG
TGCTGCCAGA GAAGGGAGGG CATCCCCTGAThe stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq NP_542172.2 CDS 43..1032 Translation 
Target ORF information:
RefSeq Version NM_080605.4 Organism Homo sapiens(human) Definition Homo sapiens beta-1,3-galactosyltransferase 6 (B3GALT6), mRNA. Target ORF information:
Epitope DYKDDDDK Bacterial selection AMPR Mammalian selection NeoR Vector pcDNA3.1+/C-(K)DYK 
NM_080605.4
ORF Insert Sequence:
1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961ATGAAGCTGC TGCGGCGGGC GTGGCGGCGG CGGGCGGCGC TAGGCCTGGG CACGCTGGCG
CTGTGCGGGG CGGCGCTGCT CTACCTGGCG CGCTGCGCGG CCGAGCCCGG GGACCCCAGG
GCGATGTCGG GCCGCAGCCC GCCTCCCCCC GCGCCCGCGC GCGCCGCCGC CTTCCTGGCA
GTGCTGGTGG CCAGCGCGCC CCGCGCCGCC GAGCGCCGCA GCGTGATCCG CAGCACGTGG
CTTGCGCGGC GCGGGGCCCC GGGCGACGTG TGGGCGCGCT TTGCCGTGGG CACGGCCGGC
CTGGGCGCCG AGGAGCGGCG CGCCCTGGAG CGGGAGCAGG CGCGGCACGG GGACCTGCTG
CTGCTGCCCG CGCTGCGCGA CGCCTACGAA AACCTCACGG CCAAGGTGCT GGCCATGCTG
GCCTGGCTGG ACGAGCACGT GGCCTTCGAG TTCGTGCTCA AGGCGGACGA CGACTCCTTC
GCGCGGCTGG ACGCGCTGCT GGCCGAGCTG CGCGCCCGCG AGCCCGCGCG CCGCCGCCGC
CTCTACTGGG GCTTCTTCTC GGGCCGCGGC CGCGTCAAGC CGGGGGGGCG CTGGCGCGAG
GCCGCCTGGC AACTCTGCGA CTACTACCTG CCCTACGCGC TGGGCGGCGG CTACGTGCTC
TCGGCCGACC TGGTGCACTA CCTGCGCCTC AGCCGCGACT ACCTGCGCGC CTGGCACAGC
GAGGACGTGT CTCTGGGCGC CTGGCTGGCG CCGGTGGACG TCCAGCGGGA GCACGACCCG
CGCTTCGACA CCGAATACCG GTCCCGCGGC TGCAGCAACC AGTACCTGGT GACGCACAAG
CAGAGCCTGG AGGACATGCT GGAGAAGCAC GCGACGCTGG CGCGCGAGGG CCGCCTGTGC
AAGCGCGAGG TGCAGCTGCG CCTGTCCTAC GTGTACGACT GGTCCGCGCC GCCCTCGCAG
TGCTGCCAGA GAAGGGAGGG CATCCCCTGAThe stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID OHu18507 Clone ID Related Accession (Same CDS sequence) NM_080605.4 , NM_080605.3 Accession Version NM_080605.3 Documents for ORF clone product in default vector Sequence Information ORF Nucleotide Sequence (Length: 990bp)
Protein sequence
SNPVector pcDNA3.1-C-(k)DYK or customized vector User ManualClone information Clone Map MSDSTag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags ORF Insert Method CloneEZ™ Seamless cloning technology Insert Structure linear Update Date 1514390400000 Organism Homo sapiens(human) Product beta-1,3-galactosyltransferase 6 Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162741.44. This sequence is a reference standard in the RefSeqGene project. On Oct 19, 2006 this sequence version replaced NM_080605.2. COMPLETENESS: complete on the 3' end.
1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961ATGAAGCTGC TGCGGCGGGC GTGGCGGCGG CGGGCGGCGC TAGGCCTGGG CACGCTGGCG
CTGTGCGGGG CGGCGCTGCT CTACCTGGCG CGCTGCGCGG CCGAGCCCGG GGACCCCAGG
GCGATGTCGG GCCGCAGCCC GCCTCCCCCC GCGCCCGCGC GCGCCGCCGC CTTCCTGGCA
GTGCTGGTGG CCAGCGCGCC CCGCGCCGCC GAGCGCCGCA GCGTGATCCG CAGCACGTGG
CTTGCGCGGC GCGGGGCCCC GGGCGACGTG TGGGCGCGCT TTGCCGTGGG CACGGCCGGC
CTGGGCGCCG AGGAGCGGCG CGCCCTGGAG CGGGAGCAGG CGCGGCACGG GGACCTGCTG
CTGCTGCCCG CGCTGCGCGA CGCCTACGAA AACCTCACGG CCAAGGTGCT GGCCATGCTG
GCCTGGCTGG ACGAGCACGT GGCCTTCGAG TTCGTGCTCA AGGCGGACGA CGACTCCTTC
GCGCGGCTGG ACGCGCTGCT GGCCGAGCTG CGCGCCCGCG AGCCCGCGCG CCGCCGCCGC
CTCTACTGGG GCTTCTTCTC GGGCCGCGGC CGCGTCAAGC CGGGGGGGCG CTGGCGCGAG
GCCGCCTGGC AACTCTGCGA CTACTACCTG CCCTACGCGC TGGGCGGCGG CTACGTGCTC
TCGGCCGACC TGGTGCACTA CCTGCGCCTC AGCCGCGACT ACCTGCGCGC CTGGCACAGC
GAGGACGTGT CTCTGGGCGC CTGGCTGGCG CCGGTGGACG TCCAGCGGGA GCACGACCCG
CGCTTCGACA CCGAATACCG GTCCCGCGGC TGCAGCAACC AGTACCTGGT GACGCACAAG
CAGAGCCTGG AGGACATGCT GGAGAAGCAC GCGACGCTGG CGCGCGAGGG CCGCCTGTGC
AAGCGCGAGG TGCAGCTGCG CCTGTCCTAC GTGTACGACT GGTCCGCGCC GCCCTCGCAG
TGCTGCCAGA GAAGGGAGGG CATCCCCTGAThe stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq NP_542172.2 CDS 31..1020 Translation
Target ORF information:
RefSeq Version NM_080605.3 Organism Homo sapiens(human) Definition Homo sapiens beta-1,3-galactosyltransferase 6 (B3GALT6), mRNA. Target ORF information:
Epitope DYKDDDDK Bacterial selection AMPR Mammalian selection NeoR Vector pcDNA3.1+/C-(K)DYK NM_080605.3
ORF Insert Sequence:
1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961ATGAAGCTGC TGCGGCGGGC GTGGCGGCGG CGGGCGGCGC TAGGCCTGGG CACGCTGGCG
CTGTGCGGGG CGGCGCTGCT CTACCTGGCG CGCTGCGCGG CCGAGCCCGG GGACCCCAGG
GCGATGTCGG GCCGCAGCCC GCCTCCCCCC GCGCCCGCGC GCGCCGCCGC CTTCCTGGCA
GTGCTGGTGG CCAGCGCGCC CCGCGCCGCC GAGCGCCGCA GCGTGATCCG CAGCACGTGG
CTTGCGCGGC GCGGGGCCCC GGGCGACGTG TGGGCGCGCT TTGCCGTGGG CACGGCCGGC
CTGGGCGCCG AGGAGCGGCG CGCCCTGGAG CGGGAGCAGG CGCGGCACGG GGACCTGCTG
CTGCTGCCCG CGCTGCGCGA CGCCTACGAA AACCTCACGG CCAAGGTGCT GGCCATGCTG
GCCTGGCTGG ACGAGCACGT GGCCTTCGAG TTCGTGCTCA AGGCGGACGA CGACTCCTTC
GCGCGGCTGG ACGCGCTGCT GGCCGAGCTG CGCGCCCGCG AGCCCGCGCG CCGCCGCCGC
CTCTACTGGG GCTTCTTCTC GGGCCGCGGC CGCGTCAAGC CGGGGGGGCG CTGGCGCGAG
GCCGCCTGGC AACTCTGCGA CTACTACCTG CCCTACGCGC TGGGCGGCGG CTACGTGCTC
TCGGCCGACC TGGTGCACTA CCTGCGCCTC AGCCGCGACT ACCTGCGCGC CTGGCACAGC
GAGGACGTGT CTCTGGGCGC CTGGCTGGCG CCGGTGGACG TCCAGCGGGA GCACGACCCG
CGCTTCGACA CCGAATACCG GTCCCGCGGC TGCAGCAACC AGTACCTGGT GACGCACAAG
CAGAGCCTGG AGGACATGCT GGAGAAGCAC GCGACGCTGG CGCGCGAGGG CCGCCTGTGC
AAGCGCGAGG TGCAGCTGCG CCTGTCCTAC GTGTACGACT GGTCCGCGCC GCCCTCGCAG
TGCTGCCAGA GAAGGGAGGG CATCCCCTGAThe stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
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PubMed
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Human molecular genetics27(20)3475-3487(2018 10)
Van Damme T,Pang X,Guillemyn B,Gulberti S,Syx D,De Rycke R,Kaye O,de Die-Smulders CEM,Pfundt R,Kariminejad A,Nampoothiri S,Pierquin G,Bulk S,Larson AA,Chatfield KC,Simon M,Legrand A,Gerard M,Symoens S,Fournel-Gigleux S,Malfait F
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.
Clinical genetics93(6)1148-1158(2018 06)
Ben-Mahmoud A,Ben-Salem S,Al-Sorkhy M,John A,Ali BR,Al-Gazali L
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
American journal of human genetics92(6)935-45(2013 Jun)
Malfait F,Kariminejad A,Van Damme T,Gauche C,Syx D,Merhi-Soussi F,Gulberti S,Symoens S,Vanhauwaert S,Willaert A,Bozorgmehr B,Kariminejad MH,Ebrahimiadib N,Hausser I,Huysseune A,Fournel-Gigleux S,De Paepe A
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
American journal of human genetics92(6)927-34(2013 Jun)
Nakajima M,Mizumoto S,Miyake N,Kogawa R,Iida A,Ito H,Kitoh H,Hirayama A,Mitsubuchi H,Miyazaki O,Kosaki R,Horikawa R,Lai A,Mendoza-Londono R,Dupuis L,Chitayat D,Howard A,Leal GF,Cavalcanti D,Tsurusaki Y,Saitsu H,Watanabe S,Lausch E,Unger S,Bonafé L,Ohashi H,Superti-Furga A,Matsumoto N,Sugahara K,Nishimura G,Ikegawa S
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Diabetes care33(10)2250-3(2010 Oct)
Bailey SD,Xie C,Do R,Montpetit A,Diaz R,Mohan V,Keavney B,Yusuf S,Gerstein HC,Engert JC,Anand S,
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