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, Battenin) is a Protein Coding gene. Diseases associated with CLN3 include Ceroid Lipofuscinosis, Neuronal, 3 and Neuronal Ceroid-Lipofuscinoses. Among its related pathways are Lysosome. GO annotations related to this gene include unfolded protein binding. An important paralog of this gene is ENSG00000261832.
UniProtKB/Swiss-Prot for CLN3 Gene
Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes.