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Description
Antibody detects endogenous levels of total CLN6.
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.
Specifications
Specifications
| Antigen | CLN6 |
| Applications | Immunohistochemistry (Paraffin), Western Blot, Immunocytochemistry |
| Classification | Polyclonal |
| Concentration | 1 mg/mL |
| Conjugate | Unconjugated |
| Formulation | PBS with 50% glycerol and 0.02% sodium azide; pH 7.4 |
| Gene | CLN6 |
| Gene Accession No. | Q9NWW5 |
| Gene Alias | 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 |
| Gene Symbols | CLN6 |
| Show More |
Product Title
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