CHST6 Antibody

Code CSB-PA010102
Size US$100
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Product Details

Uniprot No.
Target Names
CHST6
Alternative Names
C GlcNAc6ST antibody; C-GlcNAc6ST antibody; Carbohydate sulfotransferase 6 antibody; Carbohydrate (N acetylglucosamine 6 O) sulfotransferase 6 antibody; Carbohydrate sulfotransferase 6 antibody; CHST6 antibody; CHST6_HUMAN antibody; Corneal GlcNAc6-sulfotransferase antibody; Corneal N acetylglucosamine 6 sulfotransferase antibody; Corneal N-acetylglucosamine-6-O-sulfotransferase antibody; Galactose N acetylglucosamine N acetylglucosamine 6 O sulfotransferase 4 beta antibody; Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta antibody; GlcNAc6ST 5 antibody; GlcNAc6ST-5 antibody; Gn6st-5 antibody; GST4 beta antibody; GST4-beta antibody; hCGn6ST antibody; N-acetylglucosamine 6-O-sulfotransferase 5 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Synthesized peptide derived from the C-terminal region of Human CHST6.
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated
Isotype
IgG
Purification Method
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Form
Liquid
Tested Applications
IF, ELISA
Recommended Dilution
Application Recommended Dilution
IF 1:200-1:1000
ELISA 1:20000
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Cooperates with B4GALT4 galactosyltransferase and B3GNT7 N-acetylglucosaminyltransferase to construct and elongate the sulfated disaccharide unit [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved in biosynthesis of keratan sulfate in cornea, with an impact on proteoglycan fibril organization and corneal transparency. Involved in sulfation of endothelial mucins such as GLYCAM1.
Gene References into Functions
  1. This is the first molecular analysis of TGFBI and CHST6 in Turkish patients with different types of corneal dystrophies. PMID: 27829782
  2. E71Q mutation results in a non-conservative amino acid change in a highly conserved functional domain of the human CHST6 that is essential for enzyme activity as the cause of Macular corneal dystrophy. PMID: 27439461
  3. Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy. PMID: 26604660
  4. Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys). PMID: 25081284
  5. This novel gene mutation expands the mutation spectrum of the CHST6 gene and contributes to the study of molecular pathogenesis of corneal dystrophy. PMID: 24311932
  6. Genetic mutation heterogeneity was revealed. No phenotype heterogeneity was revealed among patients with in vivo corneal morphology assessment or histological analysis. PMID: 24926691
  7. This study improves the knowledge of the genetic features of Mexican patients with corneal stromal dystrophies by identifying mutations in the TGFBI, CHST6, and GSN genes. PMID: 24801599
  8. Macular corneal dystrophy (MCD) may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity. PMID: 22261655
  9. analysis of pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies PMID: 21887843
  10. CHST6 gene sequencing revealed 2 heterozygous mutations in case 1, a p.Arg211Gln and a novel mutation of p.Arg177Gly and a novel homozygous mutation of p.Pro186Arg in case 2. PMID: 21242781
  11. CHST6 mutations may be responsible for the pathogenesis of macular corneal dystrophy (MCD) in Chinese patients. PMID: 20539220
  12. Novel mutations are thought to result in loss of corneal sulfotransferase function. PMID: 11818380
  13. patients with MCD (macular corneal dystrophy) combined with those reported in previous studies indicated CHST6 mutational heterogeneity. PMID: 12824236
  14. Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of macular corneal dystrophy. PMID: 12882769
  15. Mutations identified in the CHST6 gene cosegregated with the disease phenotype in all but one family studied and thus caused macular corneal dystrophy. PMID: 12882775
  16. novel frameshift and compound heterozygous mutations might be responsible for macular corneal dystrophy PMID: 12883341
  17. Mutations in the coding region of the CHST6 gene are associated with type I MCD (macular corneal dystrophy) in a cohort of patients in southern India. PMID: 14609920
  18. We identified 22 (5 nonsense, 5 frameshift, 2 insertion, and 10 missense) mutations in 36 patients from 31 families with MCD (macular corneal dystrophy) PMID: 14735064
  19. mutations in the coding region of the CHST6 gene are associated with type I macular corneal dystrophy in a cohort of patients from the United States. PMID: 15013869
  20. the stem region of GlcNAc6ST-1 influences substrate specificity, independent of its role in dimerization or Golgi retention. PMID: 15220337
  21. These novel mutations are expected to result in loss of CHST6 function, which would account for the MCD (macular corneal dystrophy) phenotype. PMID: 15652851
  22. These findings indicate that the predicted protein that is encoded by CHST6 is more severely affected in the individual with MCD type I than in the siblings with MCD type II. PMID: 15953452
  23. Twenty-six different mutations of the CHST6 gene in macular corneal dystrophy in India were identified, of which 14 mutations are novel. PMID: 16207214
  24. CHST6 mutations are cardinal to the pathogenesis of macular corneal dystrophy(MCD). MCD may result from other subtle changes in CHST6 or from genetic heterogeneity. PMID: 16568029
  25. Homozygous p.A128V mutation in CHST6 gene and compound heterozygote for p.A128V and frameshift p.V6fs resulting from 10-base pair insertion in macular corneal dystrophy(MCD)I. Compound heterozygotes for p.A128V and p.V329L in MCD II. PMID: 17093400
  26. In vivo laser confocal microscopy is capable of high-resolution visualization of characteristic corneal microstructural changes related to 3 types of genetically mapped corneal stromal dystrophies. PMID: 17846354
  27. Novel homozygous missense mutation involving a highly conserved amino acid (c.518T > C; Leu173Pro). PMID: 17896316
  28. study describes four CHST6 missense mutations present in seven of eight Czech macular corneal dystrophy (MCD) families of which the c.494G>A (p.C165Y) was novel; findings support a common founder effect for MCD in the Czech Republic PMID: 17962390
  29. Our study shows the wide range of diagnostic findings and therapeutical options in patients suffering from macular corneal dystrophy depending on the genotype. PMID: 18500531
  30. GlcNAc6ST-1 transcription is coordinated with the NF-kappaB/GATA-3 axis, which is known to figure heavily in Th2 cell differentiation PMID: 18849568
  31. in macular corneal dystrophy (MCD) patients, there were no simple correlations between immunophenotypes and specific mutations in CHST6, suggesting that factors other than CHST6 mutations may be contributing to the immunophenotypes in MCD PMID: 19204788
  32. study identified seven novel and three previously reported CHST6 mutations in our panel consisting of 20 Iranian macular corneal dystrophy patients from 12 families PMID: 19223992
  33. The novel compound heterozygous mutations may contribute to the loss of CHST6 function, which induced the abnormal metabolism of keratan sulfate (KS) that deposited in the corneal stroma. PMID: 19365571

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Involvement in disease
Macular dystrophy, corneal (MCD)
Subcellular Location
Golgi apparatus membrane; Single-pass type II membrane protein.
Protein Families
Sulfotransferase 1 family, Gal/GlcNAc/GalNAc subfamily
Tissue Specificity
Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea.
Database Links

HGNC: 6938

OMIM: 217800

KEGG: hsa:4166

STRING: 9606.ENSP00000328983

UniGene: Hs.655622

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