FBP1

Chr 9

fructose-bisphosphatase 1

Also known as: FBP

NCBI Gene: 2203ENSG00000165140UniProt: P09467

Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFructose-1,6-bisphosphatase deficiency

Clinical highlights

Gene-disease validity (ClinGen)
fructose-1,6-bisphosphatase deficiency · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
104
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
LOF
Mechanism· G2P
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GeneReview available — FBP1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.079
Z-score 2.25
OE 0.32 (0.15–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.74Z-score
OE missense 0.85 (0.75–0.97)
170 obs / 199.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.32 (0.15–0.72)
0≤0.351.4
Missense OE?0.85 (0.75–0.97)
0≤0.61.4
Synonymous OE?1.20
0≤1.21.6
LoF obs/exp: 4 / 12.7Missense obs/exp: 170 / 199.4Syn Z: -1.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FBP1 · protein map & ClinVar variants

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

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