Recombinant Human Ceroid-lipofuscinosis neuronal protein 6 (CLN6)

1. The CLN6 is not only a molecular entity of the anti-aggregate activity conferred by the ER manipulation using TMalphaBC, but also serves as a potential target of therapeutic interventions. PMID: 28476624
2. describe the spectrum of clinical and neurophysiologic features associated with mutations of CLN6. PMID: 26115733
3. study demonstrates the central role of the metal transporter, Zip7, in the aberrant biometal metabolism of CLN6 variants of Neuronal ceroid lipofuscinoses. PMID: 24581221
4. The study describes the first report in the North of Morocco of the CLN6 p.I154del mutation in 3 patients belonging to a large consanguineous family. PMID: 23180398
5. our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy PMID: 22883287
6. CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival. PMID: 21359198
7. Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy. PMID: 21549341
8. Expression studies of three mutations found in CLN6 patients predicted to affect transmembrane domain 3, cytoplasmic loop 2 or result in a truncated membrane protein respectively, is reported. PMID: 20020536
9. gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein PMID: 11727201
10. novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes neuronal ceroid lipofuscinosis in mouse and man PMID: 11791207
11. Eight novel mutations identified in CLN6 in 26 families with late infantile neuronal ceroid lipofuscinosis. PMID: 12815591
12. ER-resident CLN6 protein lead to lysosomal dysfunctions, which may result in lysosomal accumulation of storage material PMID: 15010453
13. CLN6 is an ER resident protein, the activity of which, despite this location, must contribute to lysosomal function. PMID: 15265688
14. These data indicate that CLN6 mutations, in addition to those of CLN8, should be considered a diagnostic alternative in Turkish variant late-infantile neuronal ceroid lipofuscinosis patients. PMID: 15996215
15. Cholesterol accumulation in lysosomes suggests a homeostasis block as a result of CLN6p deficiency, while dysfunctional endosomal/lysosomal vesicles may act as one of the triggers for apoptosis and cell death. PMID: 16857350
16. CLN6 maintains its endoplasmic reticulum localization by expressing retention signals present in both the N-terminal cytosolic domain and in the carboxy-proximal transmembrane domains 6 and 7. PMID: 17453415
17. knockdown of SEL1L [sel-1 suppressor of lin-12-like (Caenorhabditis elegans)], a member of an E3 ubiquitin ligase complex involved in ER protein extraction, rescued significant amounts of Cln6(G123D) and Cln6(M241T) polypeptides. PMID: 18811591
18. 11 mutations in patients with neuronal ceroid lipofuscinoses, eight of which are novel, were detected in CLN6, all predicting a direct impairing of the putative gene function. PMID: 19135028
19. three families with CLN6-associated variant late infantile neuronal ceroid lipofuscinosis from Saudi Arabia are described; one had a novel mutation in the CLN6 gene PMID: 19520283

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HGNC: 2077

OMIM: 204300

KEGG: hsa:54982

STRING: 9606.ENSP00000249806

UniGene: Hs.584921