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  Domain Name: GT_GPT_euk
UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase (GPT) catalyzes the transfer of GlcNAc-1-P from UDP-GlcNAc to dolichol-P to form GlcNAc-P-P-dolichol. The reaction is the first step in the assembly of dolichol-linked oligosaccharide intermediates and is essential for eukaryotic N-glycosylation. GPT activity has been identified in all eukaryotic cells examined to date. A series of six conserved motifs designated A through F, ranging in length from 5 to 13 amino acid residues, has been identified in this family. They have been determined to be important for stable expression, substrate binding, or catalytic activities.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 8
Total Disease Mutations Found: 8
This domain occurred 1 times on human genes (2 proteins).



  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ
  MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
Mg++ binding site
putative catalytic motif


















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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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