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  Domain Name: eIF-2B_gamma_N
The N-terminal domain of gamma subunit of the eIF-2B is a subfamily of glycosyltransferase 2. N-terminal domain of gamma subunit of the eukaryotic translation initiation factor 2B (eIF-2B): eIF-2B is a guanine nucleotide-exchange factor which mediates the exchange of GDP (bound to initiation factor eIF2) for GTP, generating active eIF2.GTP complex. EIF2B is a complex multimeric protein consisting of five subunits named alpha, beta, gamma, delta and epsilon. Subunit gamma shares sequence similarity with epsilon subunit, and with a family of bifunctional nucleotide-binding enzymes such as ADP-glucose pyrophosphorylase, suggesting that epsilon subunit may play roles in nucleotide binding activity. In yeast, eIF2B gamma enhances the activity of eIF2B-epsilon leading to the idea that these subunits form the catalytic subcomplex.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 22
Total Disease Mutations Found: 16
This domain occurred 4 times on human genes (9 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)
  OVARIOLEUKODYSTROPHY
  OVARIOLEUKODYSTROPHY, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for eIF-2B_gamma_N














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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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