PLBD1
Chr 12phospholipase B domain containing 1
Also known as: LyLAP, PLBL1
The protein functions as a lysosomal processive monoaminopeptidase that preferentially cleaves hydrophobic amino acids, particularly leucine residues, and plays a key role in degrading hydrophobic transmembrane domains within lysosomes. Mutations cause neurodegenerative disorders with childhood onset, including developmental delay, intellectual disability, and progressive neurological decline. This follows autosomal recessive inheritance and the gene shows tolerance to loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
136 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 | 38 | 0 | 38 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 76 | 3 | 0 | 79 |
Likely Benign | 0 | 5 | 0 | 0 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 81 | 44 | 0 | 125 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PLBD1 · 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 →External Resources
Links to major genomics databases and tools