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Autosomal Recessive
Mutation in GBA gene, chromosome 1, glucoidase, beta, acid.
Provides instructions for making enzyme beta-glucocerebrosidase,
active in lysosomes, break down toxic substances.
Housekeeping enzymes, helps hydrolyse glucocerebroside to
produce sugar and ceramide.
waste builds up in the cells, eventually undermining its proper function
300 unique mutations
203 missense mutations, 18 nonsense mutations, 36 small insertions
or deletions that lead to either frameshifts or in-frame alterations, 14
splice junction mutations, and 13 complex alleles carrying two or
more mutations in cis