Entity Details

Primary name CLN8
Entity type gene
Source Source Link

Details

PrimaryID2055
RefseqGeneNG_008656
SymbolCLN8
NameCLN8 transmembrane ER and ERGIC protein
Chromosome8
Location8p23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-11-07
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCLN8_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001306 age-dependent response to oxidative stress
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0006644 phospholipid metabolic process
GO:0006672 ceramide metabolic process
GO:0006869 lipid transport
GO:0007006 mitochondrial membrane organization
GO:0007040 lysosome organization
GO:0007399 nervous system development
GO:0007601 visual perception
GO:0007628 adult walking behavior
GO:0008203 cholesterol metabolic process
GO:0008306 associative learning
GO:0008361 regulation of cell size
GO:0008610 lipid biosynthetic process
GO:0016021 integral component of membrane
GO:0021523 somatic motor neuron differentiation
GO:0030163 protein catabolic process
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0035176 social behavior
GO:0043066 negative regulation of apoptotic process
GO:0044257 cellular protein catabolic process
GO:0045494 photoreceptor cell maintenance
GO:0045861 negative regulation of proteolysis
GO:0046513 ceramide biosynthetic process
GO:0050881 musculoskeletal movement
GO:0050884 neuromuscular process controlling posture
GO:0050885 neuromuscular process controlling balance
GO:0051935 glutamate reuptake
GO:0055088 lipid homeostasis
GO:0060041 retina development in camera-type eye
GO:0060052 neurofilament cytoskeleton organization
GO:0097001 ceramide binding
GO:0098793 presynapse

Diseases

Show/Hide Table
Disease IDSourceNameDescription
600143 OMIMCeroid 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. The disease is caused by variants affecting the gene represented in this entry.
610003 OMIMCeroid 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. The disease is caused by variants affecting the gene represented in this entry.