CLN3
Chr 16ARCLN3 lysosomal/endosomal transmembrane protein, battenin
Also known as: BTN1, BTS, JNCL, RP101, SLC29B1
This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CLN3 · 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
Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae
ACTIVE NOT RECRUITINGA First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Gene Therapy With TTX-381 for the Ocular Manifestations Associated With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease
RECRUITINGStudy for the Treatment for CLN7 Disease
ACTIVE NOT RECRUITINGLong-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer
ACTIVE NOT RECRUITINGNatural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
RECRUITINGRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGExamining Developmental Outcomes of Children Diagnosed With CLN2 Disease
ENROLLING BY INVITATIONGene Therapy for Children With CLN3 Batten Disease
ACTIVE NOT RECRUITINGGene Therapy Trial for CLN6 Batten Disease
NOT YET RECRUITINGInherited Retinal Degenerative Disease Registry
RECRUITINGGene Therapy Study for Children With CLN5 Batten Disease
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools