Aliases for CLN3 Gene
External Ids for CLN3 Gene
Previous HGNC Symbols for CLN3 Gene
Previous GeneCards Identifiers for CLN3 Gene
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]
GeneCards Summary for CLN3 Gene
CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin) is a Protein Coding gene. Diseases associated with CLN3 include Ceroid Lipofuscinosis, Neuronal, 3 and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Lysosome. Gene Ontology (GO) annotations related to this gene include unfolded protein binding. An important paralog of this gene is ENSG00000261832.
UniProtKB/Swiss-Prot Summary for CLN3 Gene
Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes.