Aliases for CLN5 Gene
External Ids for CLN5 Gene
Previous GeneCards Identifiers for CLN5 Gene
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]
GeneCards Summary for CLN5 Gene
CLN5 (CLN5 Intracellular Trafficking Protein) is a Protein Coding gene. Diseases associated with CLN5 include Ceroid Lipofuscinosis, Neuronal, 5 and Visual Epilepsy. Among its related pathways are Lysosome. Gene Ontology (GO) annotations related to this gene include mannose binding. An important paralog of this gene is ENSG00000283208.
UniProtKB/Swiss-Prot Summary for CLN5 Gene
Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane (PubMed:22431521).