GLB1L3

Chr 11

galactosidase beta 1 like 3

NCBI Gene: 112937ENSG00000166105UniProt: Q8NCI6

The GLB1L3 protein cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. No definitive disease associations have been established for pathogenic variants in this gene based on the available data. The gene appears to tolerate loss-of-function variants well, as indicated by constraint metrics.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
4
Pubs (1 yr)
89
P/LP submissions
0%
P/LP missense
1.21
LOEUF
—
Mechanism
Clinical Summary— GLB1L3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
89 unique Pathogenic / Likely Pathogenic· 112 VUS of 228 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.21LOEUF
pLI 0.000
Z-score 0.49
OE 0.92 (0.70–1.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.04Z-score
OE missense 1.01 (0.92–1.10)
359 obs / 356.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.92 (0.70–1.21)
0≤0.351.4
Missense OE1.01 (0.92–1.10)
0≤0.61.4
Synonymous OE1.11
0≤1.21.6
LoF obs/exp: 36 / 39.3Missense obs/exp: 359 / 356.7Syn Z: -1.00

ClinVar Variant Classifications

228 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic82
Likely Pathogenic7
VUS112
Likely Benign16
Benign2
82
Pathogenic
7
Likely Pathogenic
112
VUS
16
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
82
0
82
Likely Pathogenic
0
0
7
0
7
VUS
0
102
10
0
112
Likely Benign
0
11
3
2
16
Benign
0
0
2
0
2
Total01131042219

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GLB1L3 · 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
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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