Gene Symbol | CLN5 |
Entrez Gene ID | 1203 |
Full Name | CLN5, intracellular trafficking protein |
Synonyms | NCL |
General protein information |
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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, 5, 256731 (3) |