CLN8

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 a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), 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. [provided by RefSeq, Jul 2017]

CLN8, Transmembrane ER And ERGIC Protein

Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.

Adult walking behavior Source: Ensembl
Age-dependent response to oxidative stress Source: Ensembl
Associative learning Source: Ensembl
Cellular protein catabolic process Source: Ensembl
Ceramide biosynthetic process Source: UniProtKB
Ceramide metabolic process Source: UniProtKB
Cholesterol metabolic process Source: UniProtKB
Glutamate reuptake Source: Ensembl
Lipid biosynthetic process Source: UniProtKB
Lipid homeostasis Source: GO_Central
Lipid transport Source: UniProtKB
Lysosome organization Source: Ensembl
Mitochondrial membrane organization Source: Ensembl
Musculoskeletal movement Source: Ensembl
Negative regulation of apoptotic process Source: Ensembl
Negative regulation of proteolysis Source: UniProtKB
Nervous system development Source: UniProtKB
Neurofilament cytoskeleton organization Source: Ensembl
Neuromuscular process controlling balance Source: Ensembl
Neuromuscular process controlling posture Source: Ensembl
Phospholipid metabolic process Source: UniProtKB
Photoreceptor cell maintenance Source: Ensembl
Protein catabolic process Source: UniProtKB
Regulation of cell size Source: Ensembl
Retina development in camera-type eye Source: Ensembl
Social behavior Source: Ensembl
Somatic motor neuron differentiation Source: Ensembl
Visual perception Source: Ensembl

Endoplasmic reticulum membrane; Endoplasmic reticulum; Endoplasmic reticulum-Golgi intermediate compartment membrane

Ceroid lipofuscinosis, neuronal, 8 (CLN8):
A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE):
A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.

Does not seem to be N-glycosylated.