CLN6, Official Symbol CLN6provided by HGNC Official Full Name CLN6 transmembrane ER proteinprovided by HGNC Primary source HGNC:HGNC:2077 See related Ensembl:ENSG00000128973 MIM:606725; AllianceGenome:HGNC:2077 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 nclf; CLN4A; CLN6A; HsT18960 Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 12.1), colon (RPKM 10.8) and 25 other tissues See more Orthologs mouse all