A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.
Nakano T.; Muscillo M.; Ohno K.; Hoffman A.J.; Suzuki K.;
J. Neurochem. 51:984-987(1988)
Cited for: VARIANT GM2G1 LYS-482;
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
Kaufman M.; Grinshpun-Cohen J.; Karpati M.; Peleg L.; Goldman B.; Akstein E.; Adam A.; Navon R.;
Hum. Mutat. 10:295-300(1997)
Cited for: VARIANTS GM2G1 GLN-170; PHE-304 DEL AND LYS-482;
Tay Sachs disease mutations in HEXA target the alpha chain of hexosaminidase A to ER-associated degradation.
Dersh D.; Iwamoto Y.; Argon Y.;
Mol. Biol. Cell 27:3813-3827(2016)
Cited for: CHARACTERIZATION OF VARIANTS GM2G1 SER-269 AND LYS-482;
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