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


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



Related Questions

A member asked:

Is there a genetics test for type one diabetes?

3 doctors weighed in across 2 answers

Online Primary Care Doctors Accepting New Patients

$44 video appointments available today with a membership as low as $15/month

Book a Video Appointment
Ask your question
Didn't find what you're looking for?

90,000 U.S. doctors in 147 specialties are here to answer your questions or offer you advice, prescriptions, and more.

Ask your question

Meet your new favorite doctor