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...
Topics
- Animals
- Base Sequence
- CHO Cells
- Cricetinae
- DNA Primers
- Genetic Variation
- Hexosaminidase A
- Humans
- Male
- Molecular Sequence Data
- Point Mutation
- Protein Conformation
- Tay-Sachs Disease
- Transfection
- beta-N-Acetylhexosaminidases