Name
|
CLN5 intracellular trafficking protein | Cytological Location | 13q22.3 |
| Brief Description | CLN5 intracellular trafficking protein |
| Description | 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] |
Gene --> GO terms.
Gene -> HPO annotation (Human Phenotype Ontology)
Mouse Gene --> Allele [Phenotype]
Gene --> Chromosomal location.
Gene --> GO terms.
Gene --> Overlapping genes.
Gene (Hum OR Rat) --> Mouse Allele (Phenotype)
Gene --> Alleles and Disease (clinVar data)
Gene -> HPO annotation (Human Phenotype Ontology)
Mouse Gene --> Allele [Phenotype]
