PGGT1B

Chr 5

protein geranylgeranyltransferase type I subunit beta

Also known as: BGGI, GGTI

NCBI Gene: 5229ENSG00000164219UniProt: P53609OMIM: 602031

Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.60LOEUF
pLI 0.041
Z-score 2.84
OE 0.31 (0.17–0.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.01Z-score
OE missense 0.80 (0.70–0.91)
157 obs / 196.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.31 (0.17–0.60)
0≤0.351.4
Missense OE?0.80 (0.70–0.91)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 6 / 19.6Missense obs/exp: 157 / 196.8Syn Z: -0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PGGT1B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients