Product Name
CLN8, cDNA Clone
Full Product Name
CLN8 cDNA Clone
Product Gene Name
CLN8 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
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
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of CLN8 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for CLN8. It may not necessarily be applicable to this product.
NCBI Accession #
BC007725
[Other Products]
UniProt Secondary Accession #
Q86U71; Q96I95[Other Products]
UniProt Related Accession #
Q9UBY8[Other Products]
Molecular Weight
32,787 Da
NCBI Official Full Name
Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation), mRNA
NCBI Official Synonym Full Names
ceroid-lipofuscinosis, neuronal 8
NCBI Official Symbol
CLN8??[Similar Products]
NCBI Official Synonym Symbols
EPMR; C8orf61
??[Similar Products]
NCBI Protein Information
protein CLN8
UniProt Protein Name
Protein CLN8
UniProt Gene Name
CLN8??[Similar Products]
UniProt Synonym Gene Names
C8orf61??[Similar Products]
UniProt Entry Name
CLN8_HUMAN
NCBI Summary for CLN8
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 Comments for CLN8
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
1. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population.
Precautions
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Disclaimer
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