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  Domain Name: M1P_guanylylT_B_like
N-terminal domain of the M1P-guanylyltransferase B-isoform like proteins. GDP-mannose pyrophosphorylase (GTP: alpha-d-mannose-1-phosphate guanyltransferase) catalyzes the formation of GDP-d-mannose from GTP and alpha-d-mannose-1-Phosphate. It contains an N-terminal catalytic domain and a C-terminal Lefthanded-beta-Helix fold domain. GDP-d-mannose is the activated form of mannose for formation of cell wall lipoarabinomannan and various mannose-containing glycolipids and polysaccharides. The function of GDP-mannose pyrophosphorylase is essential for cell wall integrity, morphogenesis and viability. Repression of GDP-mannose pyrophosphorylase in yeast leads to phenotypes, such as cell lysis, defective cell wall, and failure of polarized growth and cell separation.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 16
Total Disease Mutations Found: 10
This domain occurred 3 times on human genes (7 proteins).



  ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
  ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (AAMR)
  LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
  LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A14 (MDDGA14)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION B14 (MDDGB14)


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
probable substrate bindin
metal binding site















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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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