CLN8
Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.[1][2]
Molecular biology
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.[2]
Clinical
Mutations in this gene are associated with progressive epilepsy with mental retardation (EPMR), a subtype of neuronal ceroid lipofuscinosis (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.
References
- ↑ Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE (Oct 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.
- ↑ 2.0 2.1 "Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)".
External links
Further reading
- Dawson G, Cho S (2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes.". J. Neurosci. Res. 60 (2): 133–40. doi:10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3. PMID 10740217.
- Ranta S, Lehesjoki AE (2001). "Northern epilepsy, a new member of the NCL family.". Neurol. Sci. 21 (3 Suppl): S43–7. doi:10.1007/s100720070039. 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. doi:10.1016/S0968-0004(02)02154-0. 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. doi:10.1101/gr.6.5.351. PMID 8743986.
- 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. doi:10.1093/hmg/9.11.1691. 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. PMC 139241. 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. PMC 1180612. 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. PMC 528928. 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. PMC 1356129. PMID 16344560.
| ||||||||||||||||||||||||||||||||||||||||||||||