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Literature summary for 2.7.1.60 extracted from

  • Sparks, S.E.; Ciccone, C.; Lalor, M.; Orvisky, E.; Klootwijk, R.; Savelkoul, P.J.; Dalakas, M.C.; Krasnewich, D.M.; Gahl, W.A.; Huizing, M.
    Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy (2005), Glycobiology, 15, 1102-1110.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information naturally occurring mutations in patients with hereditary inclusion body myopathy, mutations G135V, V216A, R246W, A631V, and M217T identified, mutations severely affect both activities of the bifunctional enzyme Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + N-acyl-D-mannosamine Homo sapiens key and rate limiting enzyme in the synthesis of N-acetylneuraminic acid and therefore of nearly all other sialic acids, enzyme mutations can cause hereditary inclusion body myopathy ADP + N-acyl-D-mannosamine 6-phosphate
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
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patients with hereditary inclusion body myopathy
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Source Tissue

Source Tissue Comment Organism Textmining
fibroblast cultured cells Homo sapiens
-

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
-
?
ATP + N-acyl-D-mannosamine key and rate limiting enzyme in the synthesis of N-acetylneuraminic acid and therefore of nearly all other sialic acids, enzyme mutations can cause hereditary inclusion body myopathy Homo sapiens ADP + N-acyl-D-mannosamine 6-phosphate
-
?

Synonyms

Synonyms Comment Organism
UDP-GlcNAc 2-epimerase/ManNAc kinase
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Homo sapiens
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase two different enzyme activities combined in a single bifunctional enzyme Homo sapiens