ENGASE

Chr 17

endo-beta-N-acetylglucosaminidase

ENSG00000167280UniProt: Q8NFI3

The encoded cytosolic endoglycosidase cleaves N-glycans from glycoproteins by hydrolyzing the beta-1,4-glycosidic bond in the N,N'-diacetylchitobiose core and processes free oligosaccharides in the cytosol. Mutations in ENGASE have not been established to cause human disease. The gene appears tolerant to loss-of-function variants based on constraint metrics.

Summary from RefSeq, UniProt
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0
Active trials
9
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
1.34
LOEUF
—
Mechanism
Clinical Summary— ENGASE
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.34LOEUF
pLI 0.000
Z-score -0.09
OE 1.02 (0.78–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.02Z-score
OE missense 1.00 (0.93–1.08)
451 obs / 449.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.02 (0.78–1.34)
0≤0.351.4
Missense OE1.00 (0.93–1.08)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 37 / 36.4Missense obs/exp: 451 / 449.8Syn Z: -0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ENGASE · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Simultaneous detection of PNGase and ENGase activities in tissue lysate or cytosol using a simply designed high-mannose-type glycopeptide probe containing an Asn-leu-leu sequence.
Kamata Y et al.·Bioorg Med Chem Lett
2026
A fluorogenic probe for core-fucosylated glycan-preferred ENGase.
Ishii N et al.·Carbohydr Res
2023
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Bi Y et al.·Bioorg Med Chem Lett
2017
Heritable Genomic Fragment Deletions and Small Indels in the Putative ENGase Gene Induced by CRISPR/Cas9 in Barley.
Kapusi E et al.·Front Plant Sci
2017Open Access
Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene.
Fujihira H et al.·PLoS Genet
2017Open Access
Top 5 resultsSearch Europe PMC ↗

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