GNPDA1

Chr 5

glucosamine-6-phosphate deaminase 1

Also known as: GNP1, GNPDA, GNPI, GPI, HLN

NCBI Gene: 10007ENSG00000113552UniProt: P46926OMIM: 601798

Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010]

OMIMResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.50
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.000
Z-score 0.28
OE 0.91 (0.57–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.79Z-score
OE missense 0.61 (0.52–0.72)
104 obs / 169.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.91 (0.57–1.50)
0≤0.351.4
Missense OE?0.61 (0.52–0.72)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 11 / 12.1Missense obs/exp: 104 / 169.4Syn Z: -0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GNPDA1 · 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