GM2A Chromosome 5
Ganglioside GM2 activator
Upload your DNA to see your personal genotypes for variants in GM2A.
What This Gene Does
This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
MD-2 related lipid recognition domain containing
Locus Type
gene with protein product
Location
5q33.1
Ensembl
ENSG00000196743
Associated Conditions (2)
Tay-Sachs disease
variant AB
Key Variants
RS1057519021
Likely pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
RS1057519022
Likely pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
RS1174735558
Likely pathogenic
Health Risk
RS1302210667
Likely pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
RS1753894328
Likely pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
RS2531756555
Likely pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
RS2531757415
Likely pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
RS775585062
Likely pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
RS104893892
Pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
RS104893897
Pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
RS137852797
Pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
RS2114032531
Pathogenic
Tay-Sachs disease, variant AB, Tay-Sachs disease
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519021 | Health Risk | Likely pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS1057519022 | Health Risk | Likely pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS1174735558 | Health Risk | Likely pathogenic | — |
| RS1302210667 | Health Risk | Likely pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS1753894328 | Health Risk | Likely pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS2531756555 | Health Risk | Likely pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS2531757415 | Health Risk | Likely pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS775585062 | Health Risk | Likely pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS104893892 | Health Risk | Pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS104893897 | Health Risk | Pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS137852797 | Health Risk | Pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS2114032531 | Health Risk | Pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS2127240813 | Health Risk | Pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |
| RS587779405 | Health Risk | Pathogenic | Tay-Sachs disease, variant AB, Tay-Sachs disease |