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Article

The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.

American journal of human genetics - 1 Jul 1996

Hou Y, Vavougios G, Hinek A, Wu K K, Hechtman P, Kaplan F, Mahuran D J

Abstract excerpt

Substitution mutations adversely affecting the alpha-subunit of beta-hexosaminidase A (alphabeta) (EC 3.2.1.52) result in Tay-Sachs disease. The majority affect the initial folding of the pro-alpha chain in the endoplasmic reticulum, resulting in its retention and degradation. A much less common occurrence is a mutation that specifically affects an "active-site" residue necessary for substrate binding and/or...

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PMID: 8659543
PMCID: PMC1915090

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