|Other Names||Protein CLN8, CLN8, C8orf61|
|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.|
|Function||Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.|
|Cellular Location||Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a transmembrane protein belonging to afamily of proteins containing TLC domains, which are postulated tofunction in lipid synthesis, transport, or sensing. The proteinlocalizes to the endoplasmic reticulum (ER), and may recyclebetween the ER and ER-Golgi intermediate compartment. Mutations inthis gene are associated with progressive epilepsy with mentalretardation (EMPR), which is a subtype of neuronal ceroidlipofuscinoses (NCL). Patients with mutations in this gene havealtered levels of sphingolipid and phospholipids in the brain.
Reinhardt, K., et al. Clin. Genet. 77(1):79-85(2010)Vantaggiato, C., et al. Hum. Mutat. 30(7):1104-1116(2009)Kousi, M., et al. Brain 132 (PT 3), 810-819 (2009) :Striano, P., et al. Epilepsy Behav 10(1):187-191(2007)Hermansson, M., et al. J. Neurochem. 95(3):609-617(2005)
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