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Literature summary extracted from

  • Kudo, M.; Brem, M.S.; Canfield, W.M.
    Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta-subunits precursor gene (2006), Am. J. Hum. Genet., 78, 451-463.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.8.17 expressed in 293-T cells Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.7.8.17 Homo sapiens Q3T906
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.8.17 fibroblast
-
 Homo sapiens
-
2.7.8.17 lymphoblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.8.17 UDP-N-acetyl-D-glucosamine + methyl-alpha-D-mannoside
-
 Homo sapiens UMP + N-acetyl-D-glucosamine-phospho-(methyl-alpha-D-mannoside)
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.7.8.17 (UDP)–N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase
-
 Homo sapiens
2.7.8.17 GlcNAc-phosphotransferase
-
 Homo sapiens