LAMP1
Chr 13lysosome associated membrane protein 1
Also known as: CD107a, LAMPA, LGP120
LAMP1 encodes a lysosomal membrane glycoprotein that regulates lysosomal pH by inhibiting the proton channel TMEM175, facilitates autophagy and cholesterol homeostasis, and plays a critical role in NK cell cytotoxicity through cytotoxic granule trafficking. Mutations cause autosomal recessive lysosomal storage disorders with neurodegeneration and immune dysfunction. The gene is highly constrained (pLI 0.87, LOEUF 0.40), indicating intolerance to loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
100 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 | 19 | 0 | 19 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 58 | 4 | 0 | 62 |
Likely Benign | 0 | 3 | 2 | 2 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 61 | 25 | 2 | 88 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LAMP1 · 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