GGPS1
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | GGPS1 |
| GeneCards | GGPS1 |
| Diseases | GGPS1 |
| wikipedia | GGPS1 |
| GGPS1 | |
| gopubmed | GGPS1 |
| EVS | GGPS1 |
| HEFalMp | GGPS1 |
| MyGene2 | GGPS1 |
| 23andMe | GGPS1 |
| # SNPs | 0 |
The GGPS1 gene on chromosome 1 encodes the geranylgeranyl diphosphate synthase 1 protein.
Acting in a dominant manner, a very rare mutation in the GGPS1 gene, GRCh37/hg19 ch1:235505746G→T (p.Asp188Tyr), is reported as likely to be the reason for bisphosphonate-related atypical femoral fractures in one group of patients presumably with osteoporosis. This mutation currently lacks a dbSNP rs-id and therefore is not in SNPedia.10.1056/NEJMc1612804
Note that the incidence of atypical femoral fractures in the general population is cited as being quite low (5.9 per 10,000 person-years).
