CLN8
| CLN8 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 8: 1.76 – 1.8 Mb | Chr 8: 14.93 – 14.95 Mb | ||||
| PubMed search | [3] | [4] | ||||
| View/Edit Human | View/Edit Mouse |
Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.[5][6]
Molecular biology
This gene encodes a transmembrane protein that localizes to the endoplasmic reticulum (ER) and recycles between the ER and the Golgi apparatus via COPII- and COPI-coated vesicles.[7] CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER.[7] CLN8 proteins pair with CLN6 proteins to form the EGRESS complex (ER-to-Golgi relaying of enzymes of the lysosomal system), the functional unit responsible for the export of lysosomal enzymes from the endoplasmic reticulum.[8]
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
- ^ a b c ENSG00000278220 GRCh38: Ensembl release 89: ENSG00000182372, ENSG00000278220 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026317 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 23920094.
- ^ "Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)".
- ^ PMID 30397314.
- PMID 32597833.
Further reading
- Dawson G, Cho S (2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes". J. Neurosci. Res. 60 (2): 133–40. S2CID 28786470.
- Ranta S, Lehesjoki AE (2001). "Northern epilepsy, a new member of the NCL family". Neurol. Sci. 21 (3 Suppl): S43–7. S2CID 11677694.
- 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.
- 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. 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. 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. 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. S2CID 34924032.
- 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. 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. S2CID 23379785.
- 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. PMID 16344560.
External links
- GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses
- Human CLN8 genome location and CLN8 gene details page in the UCSC Genome Browser.
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