Symbol
| GBA
| contributors: mct/npt/shn - updated : 23-10-2013
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HGNC name
| glucosidase, beta, acid
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HGNC id
| 4177
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Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
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constitutional
| germinal mutation
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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
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| loss of function
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loss of GBA activity is sufficient to cause lysosomal dysfunction and accumulation of alpha-synuclein aggregates | constitutional
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| --low
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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
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to Parkinson disease |
Variant & Polymorphism
other
| strong association between GBA mutations and Parkinson disease (Sidransky 2009) |
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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 |
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| 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 |