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.
