CLN8 Antibody, HRP conjugated

1. CLN8 recruits lysosomal soluble proteins in the endoplasmic reticulum (ER), delivers them to the Golgi apparatus via COPII-coated vesicles, and recycles back to the ER via COPI-coated vesicles. CLN8 interacts with the lysosomal soluble proteins through its large luminal loop. The export signal of CLN8 (261VDWNF265) is localized in its cytosolic C-terminus. CLN8 deficiency results in depletion of enzymes at the lysosome. PMID: 30397314
2. Whole-exome sequencing and homozygosity mapping revealed a novel homozygous CLN8 mutation, c.677T>C (p.Leu226Pro in 5 relatives from a large Turkish consanguineous family PMID: 27844444
3. Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis PMID: 26443629
4. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population. PMID: 26657971
5. 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
6. A missense mutation at the CLN8 gene (763C>G)has been identified in 3 consanguineous Israeli-Arab patients. The phenotype in 2 of them is milder than that of their cousin who has typical neuronal ceroid lipofuscinosis. PMID: 22964447
7. CLN8 is a candidate modifier gene for GD1. Increased expression may protect against severe GD1.It may function as a protective sphingolipid sensor and/or in glycosphingolipid trafficking. PMID: 22388998
8. a novel, large CLN8 gene deletion c.544-2566_590del2613 in a Turkish family with a slightly more severe phenotype of neuronal ceroid lipofuscinose was described. PMID: 19807737
9. patients with CLN8 mutations from Italy. In these patients, the onset of epilepsy occurred between 3 and 6 years of age, with myoclonic, tonic-clonic, and atypical absence seizures. Electroencephalograms revealed focal and/or generalized abnormalities. PMID: 17129765
10. CLN8 plays a role in cell proliferation during neuronal differentiation and in protection against cell death. PMID: 19431184

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HGNC: 2079

OMIM: 600143

KEGG: hsa:2055

STRING: 9606.ENSP00000328182

UniGene: Hs.127675