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Literature summary for 2.7.8.17 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)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens Q3T906
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-
lymphoblast
-
Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

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