Literature summary for 2.7.8.15 extracted from

Plante, M.; Claveau, S.; Lepage, P.; Lavoie, E.M.; Brunet, S.; Roquis, D.; Morin, C.; Vezina, H.; Laprise, C.
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population (2008), Clin. Genet., 73, 236-244.

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Protein Variants

Protein Variants	Comment	Organism
additional information	c.3503_3504delTC: heterozygous, two-nucleotide deletion in exon 19, causes frameshift and premature translational stop (p.L1168QfsX5), detected by PCR in all tested parents of children with mucolipidosis II	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	french Canadian founder population in Saguenay-Lac-Saint-Jean (Quebec, Canada) with mucolipidosis II carrier rate at 1/39 (highest worldwide)	-

Synonyms

Synonyms	Comment	Organism
GlcNAc-phosphotransferase	encoded by genes GNPTAB and GNPTG, deficiency causes mucolipidosis II	Homo sapiens
N-acetylglucosamine-1-phosphotransferase	-	Homo sapiens

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Release 2023.1 (January 2023)