MitoProteome Database

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MT000208

UniProt Annotations

Entry Information

Gene Name	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Protein Entry	CLN8_HUMAN
UniProt ID	Q9UBY8
Species	Human

Comments

Comment type	Description
Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]: 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. {ECO:0000269\|PubMed:15024724, ECO:0000269\|PubMed:16570191, ECO:0000269\|PubMed:19201763, ECO:0000269\|PubMed:19431184, ECO:0000269\|PubMed:21990111}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE) [MIM:610003]: 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. {ECO:0000269\|PubMed:10508524, ECO:0000269\|PubMed:21990111}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. {ECO:0000269\|PubMed:19431184}.
Ptm	Does not seem to be N-glycosylated.
Similarity	Contains 1 TLC (TRAM/LAG1/CLN8) domain. {ECO:0000255\|PROSITE-ProRule:PRU00205}.
Subcellular Location	Endoplasmic reticulum membrane {ECO:0000269\|PubMed:10861296}; Multi-pass membrane protein {ECO:0000269\|PubMed:10861296}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269\|PubMed:10861296}; Multi-pass membrane protein {ECO:0000269\|PubMed:10861296}.
Web Resource	Name=NCL CLN8; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/cln8.shtml";