CLN5
Chr 13ARCLN5 intracellular trafficking protein
The CLN5 protein functions in lysosomal degradation of post-translationally modified proteins. Mutations cause neuronal ceroid lipofuscinosis type 5 (CLN5 disease), a form of Batten disease characterized by autosomal recessive inheritance and progressive neurodegeneration in children. The disease results from loss-of-function mutations that disrupt lysosomal storage function, leading to accumulation of lipofuscin and other cellular debris.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CLN5 · 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
Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
RECRUITINGGene Therapy Study for Children With CLN5 Batten Disease
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools