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GRN

From SNPedia
is agene
is mentioned by
Full namegranulin
EntrezGene2896
PheGenI2896
VariationViewer2896
ClinVarGRN
GeneCardsGRN
dbSNP2896
DiseasesGRN
SADR2896
HugeNav2896
wikipediaGRN
googleGRN
gopubmedGRN
EVSGRN
HEFalMpGRN
MyGene2GRN
23andMeGRN
UniProtP28799
EnsemblENSG00000030582
OMIM138945
# SNPs22
 Max MagnitudeChromosome positionSummary
rs193026789744,352,047
rs287909644,346,188
rs3442483544,350,177
rs479293844,347,231
rs5848344,352,876
rs606231220744,349,260
rs606231221744,351,164
rs63749801044,350,266
rs63749817044,350,801
rs63749877044,351,141
rs63750077044,350,251
rs63750331044,349,167
rs63750448044,351,792
rs63751006044,349,166
rs637512433.844,349,190
rs63751294044,352,404
rs794729669744,350,341
rs794729670744,351,409
rs794729671744,352,081
rs794729672744,349,251
rs85071344,350,364
rs9897526044,349,572

[PMID 24163244OA-icon.png] Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency.

[PMID 28404863OA-icon.png] {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.