CLN6 Products

Description

CLN6, a 311-amino acid protein, has 7 predicted transmembrane domains and is conserved across vertebrates. The CLN6 protein localizes to the endoplasmic reticulum but contributes to lysosomal function. Mutations in the CLN6 gene cause variant late-onset infantile neuronal ceroid lipofuscinosis (vLINCL), a lysosomal storage disorder marked by progressive mental deterioration and blindness; part of a group of severe inherited neurodegenerative disorders affecting children wherein lysosomes accumulate storage material, causing the death of neurons. CLN6 is one of eight proteins, including CLN1-8, that are associated with NCL.

Bioinformatics

Entrez	54982 Human
Uniprot	NM_017882 Human NP_060352.1 Human Q9NWW5 Human
Product By Gene ID	54982
Alternate Names	ceroid-lipofuscinosis neuronal protein 6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant FLJ20561 HsT18960 nclf Protein CLN6