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CLN6 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol CLN6
Entrez Gene ID 54982
Full Name CLN6, transmembrane ER protein
Synonyms CLN4A,HsT18960,nclf
General protein information
Preferred Names

CLN6, transmembrane ER protein

Names

ceroid-lipofuscinosis neuronal protein 6
ceroid-lipofuscinosis neuronal 6 late infantile
ceroid-lipofuscinosis, neuronal 6, late infantile

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

15

15q23

Summary This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008].
Disorder MIM:

606725

Disorder Html: Ceroid-lipofuscinosis, neuronal-6, variant late infantile, 601780

mRNA and Protein(s)

mRNA Protein Name
NM_017882.2 NP_060352.1 ceroid-lipofuscinosis neuronal protein 6



Danio rerio (zebrafish) cln6a NP_001005982.1
Xenopus tropicalis (tropical clawed frog) cln6 NP_001120230.1
Canis lupus familiaris (dog) CLN6 NP_001011888.1
Mus musculus (house mouse) Cln6 NP_001028347.1
Homo sapiens (human) CLN6 NP_060352.1
Bos taurus (cattle) CLN6 NP_001103454.1
Rattus norvegicus (Norway rat) Cln6 NP_001178723.1
Gallus gallus (chicken) CLN6 NP_001264557.1


Related articles in PubMed

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S
Neurology85(4)316-24(2015 Jul)

Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder.
Grubman A, Lidgerwood GE, Duncan C, Bica L, Tan JL, Parker SJ, Caragounis A, Meyerowitz J, Volitakis I, Moujalled D, Liddell JR, Hickey JL, Horne M, Longmuir S, Koistinaho J, Donnelly PS, Crouch PJ, Tammen I, White AR, Kanninen KM
Acta neuropathologica communications225(2014 Feb)

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.
Bouhouche A, Regragui W, El Fahime E, Bouslam N, Tazi-Ahnini R, Melloul M, Benomar A, Yahyaoui M
Indian journal of pediatrics80(8)694-6(2013 Aug)

Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
, ,
The American journal of psychiatry170(2)207-17(2013 Feb)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

describe the spectrum of clinical and neurophysiologic features associated with mutations of CLN6.
Title: Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

study demonstrates the central role of the metal transporter, Zip7, in the aberrant biometal metabolism of CLN6 variants of Neuronal ceroid lipofuscinoses.
Title: Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder.

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.
Title: CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy
Title: Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.

Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy.
Title: Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

The following CLN6 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the CLN6 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu26286 NM_017882.2
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Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu26286
Clone ID Related Accession (Same CDS sequence) NM_017882.2
Accession Version NM_017882.2 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 936bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-05-04
Organism Homo sapiens(Human)
Product ceroid-lipofuscinosis neuronal protein 6
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM149330.1, AK027604.1, BC013130.1, CN427564.1, BC010849.1 and CA446197.1. This sequence is a reference standard in the RefSeqGene project. On Oct 17, 2008 this sequence version replaced NM_017882.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK000568.1, SRR1163658.154690.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGAGGCGA CGCGGAGGCG GCAGCACCTG GGAGCGACGG GCGGCCCAGG CGCGCAGCTG 
GGCGCCTCCT TCCTGCAGGC CAGGCATGGC TCTGTGAGCG CTGATGAGGC TGCCCGCACG
GCTCCCTTCC ACCTCGACCT CTGGTTCTAC TTCACACTGC AGAACTGGGT TCTGGACTTT
GGGCGTCCCA TTGCCATGCT GGTATTCCCT CTCGAGTGGT TTCCACTCAA CAAGCCCAGT
GTTGGGGACT ACTTCCACAT GGCCTACAAC GTCATCACGC CCTTTCTCTT GCTCAAGCTC
ATCGAGCGGT CCCCCCGCAC CCTGCCACGC TCCATCACGT ACGTGAGCAT CATCATCTTC
ATCATGGGTG CCAGCATCCA CCTGGTGGGT GACTCTGTCA ACCACCGCCT GCTCTTCAGT
GGCTACCAGC ACCACCTGTC TGTCCGTGAG AACCCCATCA TCAAGAATCT CAAGCCGGAG
ACGCTGATCG ACTCCTTTGA GCTGCTCTAC TATTATGATG AGTACCTGGG TCACTGCATG
TGGTACATCC CCTTCTTCCT CATCCTCTTC ATGTACTTCA GCGGCTGCTT TACTGCCTCT
AAAGCTGAGA GCTTGATTCC AGGGCCTGCC CTGCTCCTGG TGGCACCCAG TGGCCTGTAC
TACTGGTACC TGGTCACCGA GGGCCAGATC TTCATCCTCT TCATCTTCAC CTTCTTCGCC
ATGCTGGCCC TCGTCCTGCA CCAGAAGCGC AAGCGCCTCT TCCTGGACAG CAACGGCCTC
TTCCTCTTCT CCTCCTTCGC ACTGACCCTC TTGCTTGTGG CGCTCTGGGT CGCCTGGCTG
TGGAATGACC CTGTTCTCAG GAAGAAGTAC CCGGGTGTCA TCTACGTCCC TGAGCCCTGG
GCTTTCTACA CCCTTCACGT CAGCAGTCGG CACTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_060352.1
CDS159..1094
Misc Feature(1)246..1085
Misc Feature(2)249..251
Misc Feature(3)249..251
Misc Feature(4)324..386
Misc Feature(5)399..461
Misc Feature(6)489..551
Misc Feature(7)693..755
Misc Feature(8)768..830
Misc Feature(9)831..893
Misc Feature(10)936..998
Exon (1)1..241
Exon (2)242..356
Exon (3)357..455
Exon (4)456..644
Exon (5)645..700
Exon (6)701..823
Exon (7)824..2242
Translation

Target ORF information:

RefSeq Version NM_017882.2
Organism Homo sapiens(Human)
Definition Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_017882.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGAGGCGA CGCGGAGGCG GCAGCACCTG GGAGCGACGG GCGGCCCAGG CGCGCAGCTG 
GGCGCCTCCT TCCTGCAGGC CAGGCATGGC TCTGTGAGCG CTGATGAGGC TGCCCGCACG
GCTCCCTTCC ACCTCGACCT CTGGTTCTAC TTCACACTGC AGAACTGGGT TCTGGACTTT
GGGCGTCCCA TTGCCATGCT GGTATTCCCT CTCGAGTGGT TTCCACTCAA CAAGCCCAGT
GTTGGGGACT ACTTCCACAT GGCCTACAAC GTCATCACGC CCTTTCTCTT GCTCAAGCTC
ATCGAGCGGT CCCCCCGCAC CCTGCCACGC TCCATCACGT ACGTGAGCAT CATCATCTTC
ATCATGGGTG CCAGCATCCA CCTGGTGGGT GACTCTGTCA ACCACCGCCT GCTCTTCAGT
GGCTACCAGC ACCACCTGTC TGTCCGTGAG AACCCCATCA TCAAGAATCT CAAGCCGGAG
ACGCTGATCG ACTCCTTTGA GCTGCTCTAC TATTATGATG AGTACCTGGG TCACTGCATG
TGGTACATCC CCTTCTTCCT CATCCTCTTC ATGTACTTCA GCGGCTGCTT TACTGCCTCT
AAAGCTGAGA GCTTGATTCC AGGGCCTGCC CTGCTCCTGG TGGCACCCAG TGGCCTGTAC
TACTGGTACC TGGTCACCGA GGGCCAGATC TTCATCCTCT TCATCTTCAC CTTCTTCGCC
ATGCTGGCCC TCGTCCTGCA CCAGAAGCGC AAGCGCCTCT TCCTGGACAG CAACGGCCTC
TTCCTCTTCT CCTCCTTCGC ACTGACCCTC TTGCTTGTGG CGCTCTGGGT CGCCTGGCTG
TGGAATGACC CTGTTCTCAG GAAGAAGTAC CCGGGTGTCA TCTACGTCCC TGAGCCCTGG
GCTTTCTACA CCCTTCACGT CAGCAGTCGG CACTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Neurology85(4)316-24(2015 Jul)
Canafoglia L,Gilioli I,Invernizzi F,Sofia V,Fugnanesi V,Morbin M,Chiapparini L,Granata T,Binelli S,Scaioli V,Garavaglia B,Nardocci N,Berkovic SF,Franceschetti S


book

Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder.
Acta neuropathologica communications225(2014 Feb)
Grubman A,Lidgerwood GE,Duncan C,Bica L,Tan JL,Parker SJ,Caragounis A,Meyerowitz J,Volitakis I,Moujalled D,Liddell JR,Hickey JL,Horne M,Longmuir S,Koistinaho J,Donnelly PS,Crouch PJ,Tammen I,White AR,Kanninen KM


book

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.
Indian journal of pediatrics80(8)694-6(2013 Aug)
Bouhouche A,Regragui W,El Fahime E,Bouslam N,Tazi-Ahnini R,Melloul M,Benomar A,Yahyaoui M


book

Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
The American journal of psychiatry170(2)207-17(2013 Feb)
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