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  Domain Name: GBA2_N
beta-Glucocerebrosidase 2 N terminal. This domain is found in bacteria, archaea and eukaryotes. This domain is typically between 320 to 354 amino acids in length. This domain is found associated with pfam04685. This domain is found in the protein beta-Glucocerebrosidase 2. It is found just after the extreme N terminus. This protein is located in the ER. The N terminal is thought to be the luminal domain while the C terminal is the cytosolic domain. The catalytic domain of GBA-2 is unknown.
No pairwise interactions found for the domain GBA2_N

Total Mutations Found: 4
Total Disease Mutations Found: 3
This domain occurred 1 times on human genes (1 proteins).



  SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for GBA2_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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