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  Domain Name: GH20_hexosaminidase
Beta-N-acetylhexosaminidases of glycosyl hydrolase family 20 (GH20) catalyze the removal of beta-1,4-linked N-acetyl-D-hexosamine residues from the non-reducing ends of N-acetyl-beta-D-hexosaminides including N-acetylglucosides and N-acetylgalactosides. These enzymes are broadly distributed in microorganisms, plants and animals, and play roles in various key physiological and pathological processes. These processes include cell structural integrity, energy storage, cellular signaling, fertilization, pathogen defense, viral penetration, the development of carcinomas, inflammatory events and lysosomal storage disorders. The GH20 enzymes include the eukaryotic beta-N-acetylhexosaminidases A and B, the bacterial chitobiases, dispersin B, and lacto-N-biosidase. The GH20 hexosaminidases are thought to act via a catalytic mechanism in which the catalytic nucleophile is not provided by the solvent or the enzyme, but by the substrate itself.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 38
Total Disease Mutations Found: 34
This domain occurred 3 times on human genes (4 proteins).



  BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
  GM2-GANGLIOSIDOSIS, ADULT
  GM2-GANGLIOSIDOSIS, B1 VARIANT
  GM2-GANGLIOSIDOSIS, LATE ONSET
  GM2-GANGLIOSIDOSIS, SUBACUTE
  HEXA, CZECHOSLOVAKIAN ALLELE
  HEXA, DN ALLELE
  SANDHOFF DISEASE, ADULT TYPE
  SANDHOFF DISEASE, CHRONIC
  SANDHOFF DISEASE, INFANTILE
  SANDHOFF DISEASE, JUVENILE TYPE
  TAY-SACHS DISEASE
  TAY-SACHS DISEASE, B1 VARIANT
  TAY-SACHS DISEASE, JUVENILE


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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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