Cloned (Comment) | Organism |
---|---|
gene ChSy-1, genotyping in healthy persons and multiple sclerosis patients, recombinant expression of wild-type and mutant enzymes in COS-1 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
S126L | naturally occuring mutation, inactive mutant, the amount of chondroitin sulfate proteoglycans is reduced. In men, multiple sclerosis patients with S126L have a slower disease progression. This cSNP might be associated with the gender differences in clinical course of multiple sclerosis | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
UDP-N-acetyl-alpha-D-galactosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan | Homo sapiens | - |
UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q86X52 | gene CHSY1 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
lymphocyte | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
UDP-N-acetyl-alpha-D-galactosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan | - |
Homo sapiens | UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan | - |
? |
Synonyms | Comment | Organism |
---|---|---|
ChGn-1 | - |
Homo sapiens |
chondroitin sulfate beta-1,4-N-acetylgalactosaminyltransferase-1 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | missense mutations in the ChGn-1 gene results in an altered amount of chondroitin sulfate proteoglycans | Homo sapiens |
physiological function | ChGn-1 is a key enzyme for production of chondroitin sulfate proteoglycans | Homo sapiens |