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CLN10
Chr 11ARcathepsin D
Also known as: CLN10, CPSD, HEL-S-130P
The protein is cathepsin D, a lysosomal peptidase that degrades proteins and processes hormones and growth factors. Mutations cause neuronal ceroid lipofuscinosis-10, a progressive neurodegenerative disorder characterized by seizures, vision loss, and cognitive decline. This condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CLN10?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CLN10 · 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
External Resources
Links to major genomics databases and tools