GLT8D1
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | GLT8D1 |
| GeneCards | GLT8D1 |
| Diseases | GLT8D1 |
| wikipedia | GLT8D1 |
| GLT8D1 | |
| gopubmed | GLT8D1 |
| EVS | GLT8D1 |
| HEFalMp | GLT8D1 |
| MyGene2 | GLT8D1 |
| 23andMe | GLT8D1 |
| # SNPs | 3 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs6617 | 0 | 52,706,166 | |
| rs6765687 | 0 | 52,699,090 | |
| rs6976 | 1 | 52,694,788 |
Located on chromosome 3, the GLT8D1 gene encodes a protein known as glycosyltransferase 8 Domain Containing 1.
Several mutations located primarily in exon 4 of the GLT8D1 gene were identified in a 2019 publication [PMID 30811981
] as pathogenic (acting dominantly) for ALS, including:
- p.R92C
- often found in these ALS patients along with a p.P529L change in the ARPP21 gene
- associated with a particularly aggressive disease course with average survival of 21 months
- p.G78W
- p.I70T
- p.I87N
- p.A82E
