This antibody detects endogenous protein at a molecular weight of 40 kDa.
Purity is >95% by SDS-PAGE.
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; CLN6; neuronal ceroid lipofuscinosis; Protein CLN6
Gene Aliases: 1810065L06Rik; AW743417; CLN4A; CLN6; D9Bwg1455e; HsT18960; nclf
UniProt ID: (Human) Q9NWW5