Description
Product Characteristics:
Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes.
Subcellular location: Lumenal
Synonyms: BTS, JNCL, Battenin, Batten disease protein, Protein CLN3, CLN3
Target Information: 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]