CLN8 cdna clone
CLN8 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
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. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]
Uniprot Description
CLN8: Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 (CLN8). A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE). A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.
Protein type: Apoptosis; Endoplasmic reticulum; Membrane protein, integral; Cell development/differentiation; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 8p23
Cellular Component: endoplasmic reticulum; ER-Golgi intermediate compartment
Biological Process: ceramide metabolic process; cholesterol metabolic process; nervous system development; phospholipid metabolic process
Disease: Ceroid Lipofuscinosis, Neuronal, 8; Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Research Articles on CLN8
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Product Notes
The CLN8 cln8 (Catalog #AAA1269575) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgaatcctg cgagcgatgg gggcacatca gagagcattt ttgacctgga ctatgcatcc tgggggatcc gctccacgct gatggtcgct ggctttgtct tctacttggg cgtctttgtg gtctgccacc agctgtcctc ttccctgaat gccacttacc gttctttggt ggccagagag aaggtcttct gggacctggc ggccacgcgt gcagtctttg gtgttcagag cacagccgca ggcctgtggg ctctgctggg ggaccctgtg ctgcatgccg acaaggcgcg tggccagcag aactggtgct ggtttcacat cacgacagca acgggattct tttgctttga aaatgttgca gtccacctgt ccaacttgat cttccggaca tttgacttgt ttctggttat ccaccatctc tttgcctttc ttgggtttct tggctgcttg gtcaatctcc aagctggcca ctatctagct atgaccacgt tgctcctgga gatgagcacg ccctttacct gcgtttcctg gatgctctta aaggcgggct ggtccgagtc tctgttttgg aagctcaacc agtggctgat gattcacatg tttcactgcc gcatggttct aacctaccac atgtggtggg tgtgtttctg gcactgggac ggcctggtca gcagcctgta tctgcctcat ttgacactgt tccttgtcgg actggctctg cttacgctaa tcattaatcc atattggacc cataagaaga ctcagcagct tctcaatccg gtggactgga acttcgcaca gccagaagcc aagagcaggc cagaaggcaa cgggcagctg ctgcggaaga agaggccata g. It is sometimes possible for the material contained within the vial of "CLN8, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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