CLN5

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]

Description

CLN5 intracellular trafficking protein

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

13 (76990660 - 77019143)

Ensembl ID

ENSG00000102805  (ver. 103.38)

Orthologs

-

UniProt

O75503

neXtProt

NX_O75503

Human splice variants

Protein structure