Gene Symbol | CLN6 |
Entrez Gene ID | 54982 |
Full Name | CLN6, transmembrane ER protein |
Synonyms | CLN4A,HsT18960,nclf |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Ceroid lipofuscinosis, neuronal, 6, 601780 (3); Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3) |