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  Domain Name: GH20_chitobiase-like
A functionally uncharacterized subgroup of the Glycosyl hydrolase family 20 (GH20) catalytic domain found in proteins similar to the chitobiase of Serratia marcescens, a beta-N-1,4-acetylhexosaminidase that hydrolyzes the beta-1,4-glycosidic linkages in oligomers derived from chitin. Chitin is degraded by a two step process: i) a chitinase hydrolyzes the chitin to oligosaccharides and disaccharides such as di-N-acetyl-D-glucosamine and chitobiose, ii) chitobiase then further degrades these oligomers into monomers. This subgroup lacks the C-terminal PKD (polycystic kidney disease I)-like domain found in the chitobiases. The GH20 hexosaminidases are thought to act via a catalytic mechanism in which the catalytic nucleophile is not provided by solvent or the enzyme, but by the substrate itself.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 40
Total Disease Mutations Found: 36
This domain occurred 2 times on human genes (3 proteins).



  BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
  GM2-GANGLIOSIDOSIS, ADULT
  GM2-GANGLIOSIDOSIS, ADULT-ONSET
  GM2-GANGLIOSIDOSIS, B1 VARIANT
  GM2-GANGLIOSIDOSIS, JUVENILE
  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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