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  Domain Name: PAP2_glucose_6_phosp
PAP2_like proteins, glucose-6-phosphatase subfamily. Glucose-6-phosphatase converts glucose-6-phosphate into free glucose and is active in the lumen of the endoplasmic reticulum, where it is bound to the membrane. The generation of free glucose is an important control point in metabolism, and stands at the end of gluconeogenesis and the release of glucose from glycogen. Deficiency of glucose-6-phosphatase leads to von Gierke's disease.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 19
Total Disease Mutations Found: 14
This domain occurred 3 times on human genes (8 proteins).



  DURSUN SYNDROME
  GLYCOGEN STORAGE DISEASE IA
  NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
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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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