CLN8

Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation), also known as CLN8, is a human gene.cite web | title = Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2055| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2055| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Dawson G, Cho S |title=Batten's disease: clues to neuronal protein catabolism in lysosomes. |journal=J. Neurosci. Res. |volume=60 |issue= 2 |pages= 133–40 |year= 2000 |pmid= 10740217 |doi=
*cite journal | author=Ranta S, Lehesjoki AE |title=Northern epilepsy, a new member of the NCL family. |journal=Neurol. Sci. |volume=21 |issue= 3 Suppl |pages= S43–7 |year= 2001 |pmid= 11073227 |doi=
*cite journal | author=Winter E, Ponting CP |title=TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains? |journal=Trends Biochem. Sci. |volume=27 |issue= 8 |pages= 381–3 |year= 2002 |pmid= 12151215 |doi=
*cite journal | author=Ranta S, Lehesjoki AE, Hirvasniemi A, "et al." |title=Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p. |journal=Genome Res. |volume=6 |issue= 5 |pages= 351–60 |year= 1996 |pmid= 8743986 |doi=
*cite journal | author=Ranta S, Zhang Y, Ross B, "et al." |title=The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. |journal=Nat. Genet. |volume=23 |issue= 2 |pages= 233–6 |year= 1999 |pmid= 10508524 |doi= 10.1038/13868
*cite journal | author=Lonka L, Kyttälä A, Ranta S, "et al." |title=The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. |journal=Hum. Mol. Genet. |volume=9 |issue= 11 |pages= 1691–7 |year= 2000 |pmid= 10861296 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Verhoeven K, De Jonghe P, Van de Putte T, "et al." |title=Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 926–32 |year= 2003 |pmid= 14508709 |doi= 10.1086/378159
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Ranta S, Topcu M, Tegelberg S, "et al." |title=Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. |journal=Hum. Mutat. |volume=23 |issue= 4 |pages= 300–5 |year= 2004 |pmid= 15024724 |doi= 10.1002/humu.20018
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Hermansson M, Käkelä R, Berghäll M, "et al." |title=Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study. |journal=J. Neurochem. |volume=95 |issue= 3 |pages= 609–17 |year= 2005 |pmid= 16086686 |doi= 10.1111/j.1471-4159.2005.03376.x
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406

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