A member asked:

Are there different types of genes associated with tay-sach's?

7 doctors weighed in across 2 answers
Dr. Ira Salafsky answered

Specializes in Clinical Genetics

Almost all patients with tay-sach lack hexosaminidse a activity due to mutations in the hex a gene. The infantile form have less than 5% activity while the juvenile and adult forms have partial deficiencies. A very small subset of patients have normal hex a activity but have a mutation in the gm2 activator gene that codes for the intralysosomal protein, gm2 activator that degrades gangliosides.

Answered May 2, 2015

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Dr. Susan Rhoads answered

Specializes in Family Medicine

Tay-Sachs disease is caused by mutations in one gene, the HEXA gene. There can be various mutations of that gene though. Please see this discussion: https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease and see https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

Answered Dec 23, 2018

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