Geranylgeranyl pyrophosphate synthase
Function
Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins.
Involvement in disease
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
MDHLO
An autosomal recessive disorder characterized by early-onset progressive muscle weakness, sensorineural hearing loss, and primary amenorrhea due to ovarian insufficiency. Some patients become wheelchair-bound by the second decade, whereas others have a milder phenotype and maintain independent ambulation into adulthood. Most patients have respiratory insufficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Isoprenoid biosynthesis; farnesyl diphosphate biosynthesis; farnesyl diphosphate from geranyl diphosphate and isopentenyl diphosphate: step 1/1.
Isoprenoid biosynthesis; geranyl diphosphate biosynthesis; geranyl diphosphate from dimethylallyl diphosphate and isopentenyl diphosphate: step 1/1.
Isoprenoid biosynthesis; geranylgeranyl diphosphate biosynthesis; geranylgeranyl diphosphate from farnesyl diphosphate and isopentenyl diphosphate: step 1/1.
Sequence Similarities
Belongs to the FPP/GGPP synthase family.
Tissue Specificity
Abundantly expressed in testis (PubMed:10026212, PubMed:9741684). Found in other tissues to a lower extent (PubMed:10026212, PubMed:9741684). Expressed in dermal fibroblast and skeletal muscle (PubMed:32403198).
Cellular localization
- Cytoplasm
- Cytoplasm
- Perinuclear region
- Cytoplasm
- Myofibril
- Sarcomere
- Z line
Alternative names
Geranylgeranyl pyrophosphate synthase, GGPP synthase, GGPPSase, Dimethylallyltranstransferase, Farnesyl diphosphate synthase, Farnesyltranstransferase, Geranylgeranyl diphosphate synthase, Geranyltranstransferase, GGPS1