Recombinant Human Ceroid-lipofuscinosis neuronal protein 5 (CLN5)

1. Genotype-phenotype correlation between CNL5 gene mutations and CNL5 disease symptoms. PMID: 28542837
2. We conclude that, whereas sleep homeostasis is present in CLN5(-/-) sheep, underlying CLN5(-/-) disease processes prevent its full expression, even at early stages. PMID: 27488642
3. findings support CLN5 hypomorphic mutations cause autosomal recessive cerebellar ataxia, confirming other reports showing CLN mutations are associated with adult-onset neurodegenerative disorders PMID: 25359263
4. Two forms of CLN5, derived from the C-terminal proteolytic processing, are present in most cells and tissues. PMID: 26342652
5. There are functional differences in various N-glycosylation sites of CLN5 which affect folding, trafficking, and lysosomal function of CLN5. PMID: 24058541
6. a role for CLN5 in controlling the itinerary of the lysosomal sorting receptors by regulating retromer recruitment at the endosome PMID: 22431521
7. This study highlights a close interaction between CLN5/CLN8 proteins, and their role in sphingolipid metabolism. Our findings suggest that CLN5p/CLN8p most likely are positive modulators of CerS1 and/or CerS2. PMID: 23160995
8. analysis of mutations in neuronal ceroid lipofuscinosis protein CLN5 PMID: 20052765
9. CLN5 mutations are 1) more common in patients with neuronal ceroid lipofuscinosis (NCL) than previously reported, 2) found in patients of broad ethnic diversity, and 3) can be identified in patients with disease onset in adult and juvenile epochs PMID: 20157158
10. Study found that CLN5 interacts with several other NCL proteins namely, CLN1/PPT1, CLN2/TPP1, CLN3, CLN6 and CLN8. PMID: 19941651
11. biosynthesis and intracellular localization of this protein PMID: 11971870
12. A novel missense mutation in CLN5 was found in a Colombian family with juvenile-onset neuronal ceroid lipofuscinosis: c. 1627G>A causing Arg112His. PMID: 15728307
13. The CLN5/mRNA expression level reduced to 45% supports the existence of one mRNA non-producing allele, further noticeable at the protein level. PMID: 16814585
14. Reports two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset. PMID: 17607606
15. In cultures of brain microvascular endothelial cells, VEGF-A specifically down-regulated CLN-5 and OCLN protein and mRNA PMID: 19174516
16. Double immunofluorescence microscopy showed that while the wild-type CLN5 protein is localized in lysosomes, both mutant CLN5 proteins are retained in the endoplasmic reticulum rather than reaching the lysosome. PMID: 19309691

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HGNC: 2076

OMIM: 256731

KEGG: hsa:1203

STRING: 9606.ENSP00000366673

UniGene: Hs.30213