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CLN8
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. Note: This description may include information from UniProtKB.
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| Protein type: Apoptosis; Cell development/differentiation; Endoplasmic reticulum; Membrane protein, integral; Membrane protein, multi-pass |
| Chromosomal Location of human Ortholog: 8p23.3 |
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Cellular Component:
endoplasmic reticulum; endoplasmic reticulum membrane; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum-Golgi intermediate compartment membrane; membrane; mitochondrion; presynapse
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Molecular Function:
ceramide binding; protein binding
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Biological Process:
adult walking behavior; associative learning; ceramide biosynthetic process; ceramide metabolic process; cholesterol metabolic process; glutamate reuptake; lipid biosynthetic process; lipid homeostasis; lipid transport; lysosome organization; mitochondrial membrane organization; musculoskeletal movement; negative regulation of neuron apoptotic process; negative regulation of proteolysis; nervous system development; neurofilament cytoskeleton organization; neuromuscular process controlling balance; neuromuscular process controlling posture; phospholipid metabolic process; photoreceptor cell maintenance; protein catabolic process; regulation of cell size; retina development in camera-type eye; retinal rod cell apoptotic process; social behavior; somatic motor neuron differentiation; visual perception
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Disease: Ceroid Lipofuscinosis, Neuronal, 8; Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
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Reference #:
Q9UBY8
(UniProtKB)
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Alt. Names/Synonyms: C8orf61; ceroid-lipofuscinosis, neuronal 8; ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation); CLN8; CLN8 transmembrane ER and ERGIC protein; EPMR; FLJ39417; Protein CLN8; Q9UBY8; TLCD6
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Gene Symbols: CLN8
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Molecular weight:
32,787 Da
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Basal Isoelectric point:
8.47
Predict pI for various phosphorylation states
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