CLN3, Official Symbol CLN3provided by HGNC Official Full Name CLN3 lysosomal/endosomal transmembrane protein, batteninprovided by HGNC Primary source HGNC:HGNC:2074 See related Ensembl:ENSG00000188603 MIM:607042; AllianceGenome:HGNC:2074 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BTS; BTN1; JNCL Summary 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] Expression Ubiquitous expression in placenta (RPKM 23.0), colon (RPKM 17.0) and 25 other tissues See more Orthologs mouse all