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Literature summary for 2.4.1.226 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 2.4.1.226

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-alpha-D-glucuronate + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan Homo sapiens
-
 UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-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-alpha-D-glucuronate + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan
-
 Homo sapiens UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan
-
 ?

Synonyms

Synonyms Comment Organism
ChGn-1
-
 Homo sapiens
chondroitin glucuronyltransferase II UniProt 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 chondroitin sulfate synthase 1 (CHSY1) is the key biosynthetic enzyme forming the repeating chondroitin sulfate backbone disaccharide structure [4GlcAbeta1-3GalNAcbeta1], and polymerization of chondroitin chain by CHSY1 requires chondroitin polymerizing factors, including CHPF and CHPF2. The bifunctional enzyme CHSY1 exhibits both GlcAT-II and GalNAc-II activities Homo sapiens