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  Domain Name: Epimerase_2
UDP-N-acetylglucosamine 2-epimerase. This family consists of UDP-N-acetylglucosamine 2-epimerases EC:5.1.3.14 this enzyme catalyzes the production of UDP-ManNAc from UDP-GlcNAc. Note that some of the enzymes is this family are bifunctional, and in those instances Pfam matches only the N-terminal half of the protein suggesting that the additional C-terminal part (when compared to mono-functional members of this family) is responsible for the UPD-N-acetylmannosamine kinase activity of these enzymes. This hypothesis is further supported by the assumption that the C-terminal part of rat UDP-GlcNAc-2-epimerase is the kinase domain.
No pairwise interactions found for the domain Epimerase_2

Total Mutations Found: 36
Total Disease Mutations Found: 28
This domain occurred 1 times on human genes (6 proteins).



  INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
  NONAKA MYOPATHY
  SIALURIA


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Epimerase_2
























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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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