CLN8

From Wikipedia, the free encyclopedia

Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

Identifiers

CLN8; EPMR

External IDs

OMIM: 607837 MGI: 1349447 HomoloGene: 10340

Gene ontology
Cellular Component:	• endoplasmic reticulum • ER-Golgi intermediate compartment • membrane • integral to membrane
Biological Process:	• phospholipid metabolic process • lipid transport • nervous system development • cholesterol metabolic process • lipid biosynthetic process • protein catabolic process • negative regulation of proteolysis • ceramide biosynthetic process

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_018941 (mRNA)
NP_061764 (protein)

NM_012000 (mRNA)
NP_036130 (protein)

Location

n/a

Chr 8: 14.89 - 14.9 Mb

Pubmed search

[1]

[2]

Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation), also known as CLN8, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation).

[edit] Further reading

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