Product Name
CHST14, cDNA Clone
Full Product Name
CHST14 cDNA Clone
Product Gene Name
CHST14 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgttccccc gcccgctgac cccgctggcg gccccaaatg gcgccgagcc cctgggccgg gcgctgaggc gggcccctct gggcagggcc cgggcggggc tgggtgggcc gcccctgctg ctgccgtcca tgctgatgtt tgcggtgatc gtggcctcca gcgggctgct gctcatgatc gagcggggca tcctggccga gatgaagccc ctgcccctgc acccgcccgg ccgcgagggc acagcctggc gcgggaaagc ccccaagcct gggggcctgt ccctcagggc tggggacgcg gacttgcaag tgcggcagga cgtccggaac aggaccctgc gggcggtgtg cggacagcca ggcatgcccc gggacccctg ggacttgccg gtggggcagc ggcgcaccct gctgcgccac atcctcgtaa gtgaccgtta ccgcttcctc tactgctacg tccccaaggt ggcctgctct aactggaagc gggtgatgaa ggtgctggca ggcgtcctgg acagcgtgga cgtccgcctc aagatggacc accgcagtga cctggtgttc ctggccgacc tgcggcctga ggagattcgc taccgcctgc agcactactt taagttcctg tttgtgcggg agcccttgga acgcctcctc tctgcctacc gcaacaagtt tggcgagatc cgagagtacc agcaacgcta tggggctgag atagtgaggc ggtacagggc tggagcgggg cccagccctg caggcgacga tgtcacattc cccgagttcc tgagatacct ggtggatgag gaccctgagc gcatgaatga gcattggatg cccgtgtacc acctgtgcca gccttgtgcc gtgcactatg actttgtggg ctcctatgag aggctggagg ctgatgcaaa tcaggtgctg gagtgggtac gggcaccacc tcacgtccga tttccagctc gccaggcctg gtaccggcca gccagccccg aaagcctgca ttaccacttg tgcagtgccc cccgggccct gctgcaggat gtgctgccta agtatatcct ggacttctcc ctctttgcct acccactgcc taatgtcacc aaggaggcgt gtcagcagtg a
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of CHST14 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for CHST14. It may not necessarily be applicable to this product.
NCBI Accession #
BC049214
[Other Products]
UniProt Secondary Accession #
Q6PJ31; Q6UXA0; Q96P94[Other Products]
UniProt Related Accession #
Q8NCH0[Other Products]
Molecular Weight
42,997 Da
NCBI Official Full Name
Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14, mRNA
NCBI Official Synonym Full Names
carbohydrate sulfotransferase 14
NCBI Official Symbol
CHST14 [Similar Products]
NCBI Official Synonym Symbols
ATCS; D4ST1; EDSMC1; HNK1ST
[Similar Products]
NCBI Protein Information
carbohydrate sulfotransferase 14
UniProt Protein Name
Carbohydrate sulfotransferase 14
UniProt Synonym Protein Names
Dermatan 4-sulfotransferase 1; D4ST-1; hD4ST1
Protein Family
Carbohydrate sulfotransferase
UniProt Gene Name
CHST14 [Similar Products]
UniProt Synonym Gene Names
D4ST1; D4ST-1; hD4ST1 [Similar Products]
UniProt Entry Name
CHSTE_HUMAN
NCBI Summary for CHST14
This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
UniProt Comments for CHST14
CHST14: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. GlcUA to IdoUA. Appears to have an important role in the formation of the cerbellar neural network during postnatal brain development. Defects in CHST14 are the cause of Ehlers-Danlos syndrome musculocontractural type (EDSMC). It is a form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. Belongs to the sulfotransferase 2 family.
Protein type: EC 2.8.2.35; Membrane protein, integral; Glycan Metabolism - chondroitin sulfate biosynthesis; Transferase
Chromosomal Location of Human Ortholog: 15q15.1
Cellular Component: Golgi membrane
Molecular Function: N-acetylgalactosamine 4-O-sulfotransferase activity
Biological Process: dermatan sulfate biosynthetic process; dermatan sulfate proteoglycan metabolic process
Disease: Ehlers-danlos Syndrome, Musculocontractural Type 1
Research Articles on CHST14
1. We report on the detailed clinical characterization of two sisters with musculocontractural Ehlers-Danlos syndrome caused by a homozygous mutation in the CHST14 gene.
Precautions
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Disclaimer
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