Target

Gene symbol :  
Hexb
NCBI gene ID :  
15212
Gene full name :  
Hexosaminidase B
Synonym :  
Beta-hexosaminidase subunit beta

Protein function

Protein name :  
HEXB
Enzyme that degrades GM2 gangliosides; deficiency leads to accumulation in lysosomes.

Expected phenotype

Neurological deterioration

Human disease relevance

Mutations cause Sandhoff disease, a lysosomal storage disorder.

Model applications

Models for lysosomal storage diseases and neurodegeneration.

Keywords:

Lysosomal Storage, Neurodegeneration, Sandhoff Disease

Availability & Delivery:

  • Cryo-recovery using in-house SOPF facilities
  • Worldwide delivery by professional breeders

Hexb

conditional Knockout mouse

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