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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.
1810065L06Rik; AW743417; ceroid-lipofuscinosis; ceroid-lipofuscinosis neuronal 6 late infantile; ceroid-lipofuscinosis neuronal protein 6; ceroid-lipofuscinosis, neuronal 6; ceroid-lipofuscinosis, neuronal 6, late infantile, variant; CLN4A; CLN6; D9Bwg1455e; HsT18960; nclf; neuronal ceroid lipofuscinosis; Protein CLN6
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