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Literature summary for 2.4.1.175 extracted from

  • Saigoh, K.; Yoshimura, S.; Izumikawa, T.; Miyata, S.; Tabara, Y.; Matsushita, T.; Miki, T.; Miyamoto, K.; Hirano, M.; Kitagawa, H.; Kira, J.I.; Kusunoki, S.
    Chondroitin sulfate beta-1,4-N-acetylgalactosaminyltransferase-1 (ChGn-1) polymorphism: association with progression of multiple sclerosis (2016), Neurosci. Res., 108, 55-59.
    View publication on PubMed
Search for more literature for 2.4.1.175

Cloned(Commentary)

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

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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens Q86X52 gene CHSY1
-

Source Tissue

Source Tissue Comment Organism Textmining
lymphocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms Comment Organism
ChGn-1
-
 Homo sapiens
chondroitin sulfate beta-1,4-N-acetylgalactosaminyltransferase-1
-
 Homo sapiens

General Information

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