Literature summary for 2.4.1.226 extracted from

Ida-Yonemochi, H.; Morita, W.; Sugiura, N.; Kawakami, R.; Morioka, Y.; Takeuchi, Y.; Sato, T.; Shibata, S.; Watanabe, H.; Imamura, T.; Igarashi, M.; Ohshima, H.; Takeuchi, K.
Craniofacial abnormality with skeletal dysplasia in mice lacking chondroitin sulfate N-acetylgalactosaminyltransferase-1 (2018), Sci. Rep., 8, 17134 .

Search for more literature for 2.4.1.226

Protein Variants

Protein Variants	Comment	Organism
additional information	generation of chondroitin sulfate (CS) N-acetylgalactosaminyltransferase-1 (T1) gene knockout (KO) mice, Ehlers-Danlos syndrome (EDS)-like phenotype and phenotypic features, histological analysis, detailed overview. The protein levels of collagen type 1 and Wnt3a are significantly decreased by T1 gene knockdown by T1KD. Downregulation of collagen type 1 and Wnt3a by T1 gene knockdown in vitro and in vivo	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	Q6ZQ11	-	-

Synonyms

Synonyms	Comment	Organism
chondroitin sulfate N-acetylgalactosaminyltransferase-1	-	Mus musculus
CS N-acetylgalactosaminyltransferase-1	-	Mus musculus
More	see also EC 2.4.1.175	Mus musculus

General Information

General Information	Comment	Organism
malfunction	analysis of the craniofacial morphology in chondroitin sulfate N-acetylgalactosaminyltransferase-1 (T1) gene knockout (KO) mice. T1KO mice shows the impaired intramembranous ossification in the skull, and the final skull shape of adult mice include a shorter face, higher and broader calvaria than wild-type. Some of T1KO mice exhibit severe facial developmental defects, such as eye defects and cleft lip and palate, causing embryonic lethality. At the postnatal stages, T1KO mice with severely reduced chondroitin sulfate (CS) amounts show malocclusion, general skeletal dysplasia and skin hyperextension, closely resembling Ehlers-Danlos syndrome-like connective tissue disorders. The production of collagen type 1 is significantly downregulated in T1KO mice, and the deposition of CS-binding molecules, Wnt3a, is decreased with CS in extracellular matrices. The collagen fibers are irregular and aggregated, and connective tissues are dysorganized in the skin and calvaria of T1KO mice	Mus musculus
physiological function	chondroitin sulfate (CS) regulates the shape of the craniofacial skeleton by modulating connective tissue organization	Mus musculus

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Release 2023.1 (January 2023)