Cloned (Comment) | Organism |
---|---|
gene CHST3, gene structure, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L259P | naturally occuring mutation of CHST3 involved in enzyme deficiency and related disease | Homo sapiens |
L307P | naturally occuring mutation of CHST3 involved in enzyme deficiency and related disease | Homo sapiens |
additional information | 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 | Homo sapiens |
R222W | naturally occuring mutation of CHST3 involved in enzyme deficiency and related disease | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
3'-phosphoadenylyl sulfate + chondroitin | Homo sapiens | - |
adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q7LGC8 | gene CHST3 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | dermal | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
3'-phosphoadenylyl sulfate + chondroitin | - |
Homo sapiens | adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate | - |
? |
Synonyms | Comment | Organism |
---|---|---|
carbohydrate sulfotransferase 3 | - |
Homo sapiens |
CHST3 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | deficiency of CHST3 is associated with a phenotype of severe chondrodysplasia with progressive spinal involvement | Homo sapiens |