Literature summary for 2.4.1.174 extracted from

Saigoh, K.; Izumikawa, T.; Koike, T.; Shimizu, J.; Kitagawa, H.; Kusunoki, S.
Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies (2011), J. Hum. Genet., 56, 143-146.

Search for more literature for 2.4.1.174

Cloned(Commentary)

Cloned (Comment)	Organism
gene ChGn1, expression of His-tagged wild-type ChGn-1 and soluble mutant enzymes in COS-1 cells, secretion to the medium	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
H234R	naturally occuring mutation in exon 5 of gene ChGn1, the mutant shows neuropathy, Bells palsy and/or hereditary motor and sensory neuropathy, the mutant enzyme is inactive	Homo sapiens
M509R	naturally occuring mutation in exon 10 of gene ChGn1, the mutant shows neuropathy, Bells palsy and/or hereditary motor and sensory neuropathy, the mutant enzyme is inactive	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q8TDX6	gene ChGn-1	-

Synonyms

Synonyms	Comment	Organism
ChGn-1	-	Homo sapiens
chondroitin beta1,4-N-acetylgalactosaminyltransferase-1	-	Homo sapiens
GalNAcT-II	-	Homo sapiens
N-acetylgalactosamineT-II	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	missense mutations are found in gene ChGn-1 in exon 5, H234R, and exon 10, M509R, respectively, in two patients with neuropathy. The mutations might be associated with the pathogenetic mechanisms of the peripheral neuropathies	Homo sapiens

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Release 2023.1 (January 2023)