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Reagents, Molecular Assay, Gene Anomaly, Mutation, HEXA

Definition : 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.

Entry Terms : "Sub-Acute Hexosaminidase A Gene Mutation Detection Reagents" , "Acute Hexosaminidase A Deficiency Gene Mutation Detection Reagents" , "Adult Hexosaminidase A Deficiency Gene Mutation Detection Reagents" , "Chronic Hexosaminidase A Deficiency Gene Mutation Detection Reagents" , "Juvenile Hexosaminidase A Deficiency Gene Mutation Detection Reagents" , "Infant Hexosaminidase A Deficiency Gene Mutation Detection Reagents" , "Hexosaminidase A (HEXA) Deficiency Gene Mutation Detection Reagents" , "Tay Sachs Disease Gene Mutation Detection Reagents" , "Tay-Sachs Disease Gene Mutation Detection Reagents" , "HEXA Gene Mutation Detection Reagents" , "Tay Sachs Disease Diagnostic Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Monogenic, Tay Sachs Disease"

UMDC code : 24465

   

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