GGPS1
geranylgeranyl diphosphate synthase 1
Summary
This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs565008618 | 1:235,489,621 | A/G | — | — |
| rs10802624 | 1:235,494,971 | A/G | upstream gene variant | — |
| rs116088703 | 1:235,498,377 | G/A | upstream gene variant | — |
| rs1675831066 | 1:235,498,622 | C/T | — | uncertain significance |
| rs1157311940 | 1:235,498,623 | C/T | — | uncertain significance |
| rs1474057675 | 1:235,498,628 | A/G | — | uncertain significance |
| rs897943367 | 1:235,505,354 | A/G | — | uncertain significance |
| rs373200067 | 1:235,505,420 | C/A | — | uncertain significance |
| rs1012843795 | 1:235,505,453 | A/G | — | uncertain significance |
| rs1381823437 | 1:235,505,584 | G/A | — | uncertain significance |
| rs202228389 | 1:235,505,780 | G/A | — | uncertain significance |
| rs147435439 | 1:235,505,911 | A/G | — | uncertain significance |
| rs2528261042 | 1:235,505,948 | G/A | — | uncertain significance |
| rs2528261065 | 1:235,505,954 | T/G | — | likely pathogenic |
| rs2103351693 | 1:235,505,960 | A/G | — | pathogenic |
| rs772582396 | 1:235,505,965 | C/G | — | pathogenic |
| rs1262402879 | 1:235,505,966 | G/A | — | conflicting classifications of pathogenicity |
| rs1676087905 | 1:235,505,972 | C/A | — | uncertain significance |
| rs2103351813 | 1:235,506,038 | T/G | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.