EC Number   |
Protein Variants |
Reference |
|---|
    2.8.2.17 | L259P |
naturally occuring mutation of CHST3 involved in enzyme deficiency and related disease |
701607 |
| 2.8.2.17 | L286P |
naturally occuring mutation of gene CHST3 causing the Spondyloepiphyseal dysplasia Omani type, almost inactive mutant, phenotype, overview |
701610 |
| 2.8.2.17 | L307P |
naturally occuring mutation of CHST3 involved in enzyme deficiency and related disease |
701607 |
| 2.8.2.17 | more |
enzyme knockout by siRNA |
761061 |
| 2.8.2.17 | more |
enzyme upregulation facilitates Schwann cell migration during axonal growth, while enzyme downregulation accompanies declining mobility of Schwann cells as they engaged in the myelination of re-growing axons, overview |
675008 |
| 2.8.2.17 | more |
identification of eight naturally occuring CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations with diagnosis of either Larsen syndrome or humero-spinal dysostosis, the patients show reduced enzyme activity and congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood, genotyping, enzyme mutant phenotypes, overview |
701607 |
| 2.8.2.17 | more |
reconstitution of the chondroitin biosynthesis pathway in a recombinant Bacillus subtilis strain using sucrose as carbon source, method optimization, overview. Specific sulfation transformation systems are constructed and optimized by combining the purified aryl sulfotransferase IV (ASST IV, EC 2.8.2.1), chondroitin 4-sulfotransferase (C4ST, EC 2.8.2.5) and chondroitin 6-sulfotransferase (C6ST). Chondroitin sulfate A and C are enzymatically transformed from chondroitin at conversion rates of 98% and 96%, respectively. The ASST IV enzyme is used for PAPS regeneration. Purification of CS disaccharides by anion exchange chrmatography and NMR analysis of the composition of CS disaccharides |
760752 |
| 2.8.2.17 | N250S |
site-directed mutagenesis, mutation of a putative N-glycosylation site, deletion of the fourth N-glycosylation site from the N-terminus of the enzyme inhibits production of the active C6ST-1, the mutant remains in the endoplasmic reticulum, while all other wild-type and mutant enzymes are located in the Golgi apparatus |
674604 |
| 2.8.2.17 | N413S |
site-directed mutagenesis, mutation of a putative N-glycosylation site, deletion of the fourth or sixth N-glycosylation site from the N-terminus of the enzyme inhibits production of the active C6ST-1 |
674604 |
| 2.8.2.17 | N457S |
site-directed mutagenesis, mutation of a putative N-glycosylation site, deletion of the fifth N-glycosylation site from the N-terminus of the enzyme results in a marked loss of the keratan sulfate sulfotransferase activity |
674604 |
