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Literature summary for 5.1.3.14 extracted from

  • Hinderlich, S.; Salama, I.; Eisenberg, I.; Potikha, T.; Mantey, L.R.; Yarema, K.J.; Horstkorte, R.; Argov, Z.; Sadeh, M.; Reutter, W.; Mitrani-Rosenbaum, S.
    The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy (2004), FEBS Lett., 566, 105-109.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
expression of M712T mutant enzyme in Sf9 insect cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
M712T the homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens the homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9Y223
-
-

Purification (Commentary)

Purification (Comment) Organism
-
Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information the homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy Homo sapiens ?
-
?
UDP-N-acetyl-D-glucosamine
-
Homo sapiens UDP-N-acetyl-D-mannosamine
-
?

Synonyms

Synonyms Comment Organism
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
-
Homo sapiens