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Literature summary for 2.7.1.60 extracted from

  • Harazi, A.; Becker-Cohen, M.; Zer, H.; Moshel, O.; Hinderlich, S.; Mitrani-Rosenbaum, S.
    The interaction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) and alpha-actinin 2 is altered in GNE myopathy M743T mutant (2017), Mol. Neurobiol., 54, 2928-2938.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli BL21(DE3)pS and HEK-293T cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
M743T the mutation, which is associated with GNE myopathy, has a 10fold lower binding affinity to alpha-actinin 2 than the intact enzyme Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + N-acyl-D-mannosamine Homo sapiens
-
ADP + N-acyl-D-mannosamine 6-phosphate
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9Y223
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + N-acyl-D-mannosamine
-
Homo sapiens ADP + N-acyl-D-mannosamine 6-phosphate
-
?

Synonyms

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