GGPS1 Chromosome 1
Geranylgeranyl diphosphate synthase 1
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What This Gene Does
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]
Associated Conditions (7)
Myopathy
Sensorineural hearing loss disorder
Premature ovarian insufficiency
Muscular dystrophy
congenital hearing loss
and ovarian insufficiency syndrome
Myopathy with tubular aggregates
Key Variants
RS1262402879
Conflicting classifications of pathogenicity
Myopathy, Sensorineural hearing loss disorder, Premature ovarian insufficiency
Health Risk
RS2528261065
Likely pathogenic
Myopathy with tubular aggregates, Myopathy with tubular aggregates
Health Risk
RS2103351693
Pathogenic
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Health Risk
RS2103351813
Pathogenic
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Health Risk
RS772582396
Pathogenic
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1262402879 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, Sensorineural hearing loss disorder, Premature ovarian insufficiency |
| RS2528261065 | Health Risk | Likely pathogenic | Myopathy with tubular aggregates, Myopathy with tubular aggregates |
| RS2103351693 | Health Risk | Pathogenic | Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome |
| RS2103351813 | Health Risk | Pathogenic | Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome |
| RS772582396 | Health Risk | Pathogenic | Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome |