GRN
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | granulin |
| EntrezGene | 2896 |
| PheGenI | 2896 |
| VariationViewer | 2896 |
| ClinVar | GRN |
| GeneCards | GRN |
| dbSNP | 2896 |
| Diseases | GRN |
| SADR | 2896 |
| HugeNav | 2896 |
| wikipedia | GRN |
| GRN | |
| gopubmed | GRN |
| EVS | GRN |
| HEFalMp | GRN |
| MyGene2 | GRN |
| 23andMe | GRN |
| UniProt | P28799 |
| Ensembl | ENSG00000030582 |
| OMIM | 138945 |
| # SNPs | 22 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs193026789 | 7 | 44,352,047 | |
| rs2879096 | 0 | 44,346,188 | |
| rs34424835 | 0 | 44,350,177 | |
| rs4792938 | 0 | 44,347,231 | |
| rs5848 | 3 | 44,352,876 | |
| rs606231220 | 7 | 44,349,260 | |
| rs606231221 | 7 | 44,351,164 | |
| rs63749801 | 0 | 44,350,266 | |
| rs63749817 | 0 | 44,350,801 | |
| rs63749877 | 0 | 44,351,141 | |
| rs63750077 | 0 | 44,350,251 | |
| rs63750331 | 0 | 44,349,167 | |
| rs63750448 | 0 | 44,351,792 | |
| rs63751006 | 0 | 44,349,166 | |
| rs63751243 | 3.8 | 44,349,190 | |
| rs63751294 | 0 | 44,352,404 | |
| rs794729669 | 7 | 44,350,341 | |
| rs794729670 | 7 | 44,351,409 | |
| rs794729671 | 7 | 44,352,081 | |
| rs794729672 | 7 | 44,349,251 | |
| rs850713 | 0 | 44,350,364 | |
| rs9897526 | 0 | 44,349,572 |
[PMID 24163244
] Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency.
[PMID 28404863] {atients with heterozygous GRN mutations accumulate storage material throughout the central nervous system, and their cells exhibit signs of lysosomal dysfunction, thereby exhibiting clinical and pathological features that are strikingly similar to neuronal ceroid lipofuscinosis (NCL), previously associated only with homozygous GRN mutations. Heterozygous GRN mutations were previously known to lead to progranulin haploinsufficiency and cause frontotemporal dementia (FTD) in the elderly population.
