GGPS1

Chr 1q42.3

geranylgeranyl diphosphate synthase 1

Aliases:: GGPPS1
MANE:: ENST00000282841.9

OMIM: 606982 ↗NCBI: 9453 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GGPS1 · O95749

v62025-08-01

Predicted Aligned Error matrix for GGPS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.6/ 100

Very high

300 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)9%
Low(50–70)2%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
0.70
Alzheimer disease
0.44
neurodegenerative disease
0.43
Parkinson disease
0.43
lysosomal storage disease
0.43
multiple sclerosis
0.43
Perrault syndrome 2
0.37
Perrault syndrome 1
0.37
tubular aggregate myopathy
0.27
brain injury
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Geranylgeranyl pyrophosphate synthase

Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins