This gene encodes a transmembrane protein belonging to a
family of proteins containing TLC domains, which are postulated to
function in lipid synthesis, transport, or sensing. The protein
localizes to the endoplasmic reticulum (ER), and may recycle
between the ER and ER-Golgi intermediate compartment. Mutations in
this gene are associated with progressive epilepsy with mental
retardation (EMPR), which is a subtype of neuronal ceroid
lipofuscinoses (NCL). Patients with mutations in this gene have
altered levels of sphingolipid and phospholipids in the brain.1) Reinhardt, K., et al. Clin. Genet. 77(1):79-85(2010)
Immunogen
This CLN8 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 251-280 amino acids from the C-terminal region of human CLN8.
Western blot analysis in HL-60 cell line lysates (35ug/lane).
Application Notes
For WB starting dilution is: 1:1000:
Additional Information
Form
Liquid
Storage Instructions
Store at 4˚C for three months and -20˚C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.