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FLASH GENE
Symbol GBA contributors: mct/npt/shn - updated : 23-10-2013
HGNC name glucosidase, beta, acid
HGNC id 4177
ASSOCIATED DISORDERS
corresponding disease(s) GBA1 , GBA2 , GBA3 , PARK24
related resource Gaucher Disease at GeneDis
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
GBA mutations may be associated with pathologically "purer" Lewy Body disorders, characterized by more extensive (cortical) LB, and less severe AD pathological findings and may be a useful marker for LB disorders
constitutional       loss of function
loss of GBA activity is sufficient to cause lysosomal dysfunction and accumulation of alpha-synuclein aggregates
constitutional     --low  
in sporadic Parkinson disease are related to the abnormal accumulation of SNCA and are associated with substantial alterations in lysosomal chaperone-mediated autophagy pathways and lipid metabolism
Susceptibility to Parkinson disease
Variant & Polymorphism other strong association between GBA mutations and Parkinson disease (Sidransky 2009)
Candidate gene
  • GBA mutations may be associated with pathologically "purer" Lewy body (LB) disorders, characterized by more extensive (cortical) LB, and less severe Alzheimer disease pathological findings and may be a useful marker for LB disorders (Clark 2009)
    • Marker
    Therapy target
  • potent therapeutic potential of HDAC inhibitors as SAHA and LB-205 molecules for the treatment of Gaucher disease
    • ANIMAL & CELL MODELS
  • a natural canine model of Gaucher disease mice homozygous for the RecNciI mutation had little GC enzyme activity and accumulated glucosylceramide in brain and liver, mice homozygous for the L444P mutation had higher levels of GC activity and no detectable accumulation of glucosylceramide in brain and liver, both point mutation mice died within 48 hr of birth
  • mouse with strong reduction in GCase activity in all tissues except the skin exhibit rapid motor dysfunction associated with severe neurodegeneration and apoptotic cell death within the brain