LAPTM4B
Chr 8lysosomal protein transmembrane 4 beta
Also known as: LAPTM4beta, LC27
The LAPTM4B protein is required for optimal lysosomal function and regulates lysosomal membrane permeability, while also controlling EGFR degradation and facilitating ceramide transport from late endosomes. Mutations in LAPTM4B cause autosomal recessive cerebral atrophy with pontocerebellar hypoplasia, a severe neurodevelopmental disorder affecting brain development with onset in infancy or early childhood. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where both copies must be affected to cause disease.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LAPTM4B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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