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GENE & PROTEIN NAME:
Hexosaminidase (HEX-A)
PROTEIN FUNCTION:
HEX-A enzyme breaks down fat in nerve (brain) cells.
CHROMOSOME # 15
GENETIC INFORMATION
DISORDER TYPE:
Gene Mutation
Autosomal Recessive
Carrier parents have no idea
MUTATION:
Substitution of one nucleotide in gene
G to A