GLB1L2
Chr 11galactosidase beta 1 like 2
Also known as: MST114, MSTP114
The protein cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. This gene is not well-constrained against loss-of-function variants (LOEUF 1.12), and no established human diseases have been definitively linked to GLB1L2 mutations based on current evidence. Further research is needed to establish clear genotype-phenotype correlations for this gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
244 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 81 | 0 | 81 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 105 | 10 | 0 | 115 |
Likely Benign | 0 | 5 | 3 | 0 | 8 |
Benign | 0 | 1 | 2 | 0 | 3 |
| Total | 0 | 111 | 103 | 0 | 214 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GLB1L2 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools