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hexózaminidáza A

  1. Record numberd054818
    Date06.06.2025
    TypeM - MESH
    Topical termhexózaminidáza A
    Other termEnglish (Pseudonym) Hex A
    Slovak (Pseudonym) Hex A
    See also(Skutočné meno) Sandhoffova choroba
    (Skutočné meno) Tay-Sachsova choroba
    UDCD08.811.277.450.483.180.750
    NoteA mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
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Number of the records: 1  

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