The antibody detects endogenous levels of total CLN6 protein.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: ceroid-lipofuscinosis neuronal 6 late infantile; Ceroid-lipofuscinosis neuronal protein 6; Protein CLN6
Gene Aliases: CLN4A; CLN6; HsT18960; nclf
UniProt ID: (Human) Q9NWW5
Entrez Gene ID: (Human) 54982