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  • Molecular assay reagents intended to identify mutations in the hexosaminidase A (alpha polypeptide) (HEXA) gene, located at chromosome 15q23-q24, which encodes for a subunit of the enzyme beta hexose aminidase A in lysosomes. In the lysosome, beta aminidase A forms part of a complex that breaks down fatty acids. Mutations at this locus have been identified in patients with hexosaminidase A (HEXA) deficiency in three variants: acute infantile (Tay-Sachs disease), juvenile (subacute), and adult onset/chronic; mutations are also present in several forms of GM2 gangliosidosis.
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