Chondroitin sulfate N-acetylgalactosaminyltransferase 1

Definition:

Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification. Moreover, is involved in the metabolism of aggrecan (By similarity).

References:

[1]. Masanori Gotoh, et al. Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis. J Biol Chem. 2002 Oct 11;277(41):38189-96. [Content Brief]

[2]. Toru Uyama, et al. Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: the key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate. J Biol Chem. 2002 Mar 15;277(11):8841-6. [Content Brief]

[3]. Shuji Mizumoto, et al. CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Hum Mutat. 2020 Mar;41(3):655-667. [Content Brief]

[4]. Kazumasa Saigoh, et al. Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies. J Hum Genet. 2011 Feb;56(2):143-6. [Content Brief]

[5]. Kenichiro Sakai, et al. Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage. J Biol Chem. 2007 Feb 9;282(6):4152-61. [Content Brief]

[6]. Julia Vodopiutz, et al. Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. Hum Mutat. 2017 Jan;38(1):34-38. [Content Brief]

[7]. Takashi Sato, et al. Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate. J Biol Chem. 2003 Jan 31;278(5):3063-71. [Content Brief]

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