|Other Names||Ceroid-lipofuscinosis neuronal protein 6, Protein CLN6, CLN6|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Cellular Location||Endoplasmic reticulum membrane; Multi-pass membrane protein|
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This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.
Al-Muhaizea, M.A., et al. Pediatr. Neurol. 41(1):74-76(2009)Oresic, K., et al. Biosci. Rep. 29(3):173-181(2009)
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