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Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26286 Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu26286C Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_017882.2, 209571480
Length 936 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.
Product ceroid-lipofuscinosis neuronal protein 6
Comment

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].

RefSeq NP_060352.1
CDS 159..1094
Misc Feature(1)240..1088
Misc Feature(2)240..1088
Misc Feature(3)249..251
Misc Feature(4)249..251
Misc Feature(5)324..386
Misc Feature(6)399..461
Misc Feature(7)489..551
Misc Feature(8)693..755
Misc Feature(9)768..830
Misc Feature(10)831..893
Misc Feature(11)936..998
Exon (1)1..241
Gene:CLN6
Gene Synonym:CLN4A; HsT18960; nclf
Exon (2)242..356
Gene:CLN6
Gene Synonym:CLN4A; HsT18960; nclf
Exon (3)357..455
Gene:CLN6
Gene Synonym:CLN4A; HsT18960; nclf
Exon (4)456..644
Gene:CLN6
Gene Synonym:CLN4A; HsT18960; nclf
Exon (5)645..700
Gene:CLN6
Gene Synonym:CLN4A; HsT18960; nclf
Exon (6)701..823
Gene:CLN6
Gene Synonym:CLN4A; HsT18960; nclf
Exon (7)824..2242
Gene:CLN6
Gene Synonym:CLN4A; HsT18960; nclf
Translation MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDF GRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIF IMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCM WYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPW AFYTLHVSSRH
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Position Chain Variation Link
163+a, gdbSNP:3743088
175+c, gdbSNP:154774636
complement(192)-t, cdbSNP:112239768
complement(200)-t, gdbSNP:373776911
complement(251)-dbSNP:
complement(251)-g, adbSNP:376510900
complement(252)-g, cdbSNP:369041224
complement(258)-t, cdbSNP:146198681
complement(271)-g, adbSNP:376688261
complement(273)-g, cdbSNP:142260866
complement(293)-g, adbSNP:374577694
complement(294)-t, cdbSNP:147623032
297+c, tdbSNP:154774635
308+c, gdbSNP:154774640
complement(317)-t, cdbSNP:377148534
358+dbSNP:
358+c, tdbSNP:154774633
complement(371)-t, g, cdbSNP:146980624
complement(379)-c, adbSNP:199658226
389+c, gdbSNP:154774641
complement(428)-g, adbSNP:145247814
complement(429)-t, cdbSNP:140519790
complement(436)-g, adbSNP:150001589
complement(440)-t, gdbSNP:139261571
complement(454)-t, cdbSNP:146782642
complement(465)-dbSNP:
complement(465)-g, adbSNP:201095412
466+a, gdbSNP:154774634
474..475+, cdbSNP:397515352
complement(474)-g, adbSNP:202226970
complement(486)-g, adbSNP:143928329
complement(487)-c, adbSNP:140179213
complement(497)-t, cdbSNP:146135801
complement(515)-g, cdbSNP:141950483
complement(521)-g, adbSNP:148547876
526+a, gdbSNP:104894484
604+a, gdbSNP:154774638
618..620+, atcdbSNP:121908080
complement(635)-t, cdbSNP:370811678
669..671+dbSNP:
669..671+, tatdbSNP:121908079
complement(722)-dbSNP:
complement(722)-t, gdbSNP:371326037
complement(743)-g, adbSNP:144507672
complement(755)-g, cdbSNP:368546281
821+c, gdbSNP:104894486
complement(827)-dbSNP:
complement(827)-g, adbSNP:374271754
complement(830)-t, cdbSNP:368443679
complement(836)-g, adbSNP:374744816
870+a, c, tdbSNP:154774637
complement(881)-c, adbSNP:149262877
complement(891)-c, adbSNP:377192977
complement(899)-g, adbSNP:140653271
complement(912)-g, adbSNP:145746878
complement(913)-t, cdbSNP:374681194
complement(925)-t, cdbSNP:143781303
complement(927)-t, cdbSNP:151295143
complement(933)-t, cdbSNP:150363441
complement(956)-g, adbSNP:140319056
complement(957)-t, cdbSNP:374613712
complement(968)-g, cdbSNP:183399390
complement(979)-g, adbSNP:202012876
complement(980)-t, cdbSNP:151186473
complement(990)-t, cdbSNP:143728911
complement(998)-t, cdbSNP:148949069
complement(1008)-g, adbSNP:369715206
complement(1030)-g, adbSNP:373652272
complement(1043)-g, adbSNP:374990526
1048+, cdbSNP:154774639
complement(1070)-g, adbSNP:201330867
complement(1071)-g, adbSNP:202136006
complement(1077)-t, cdbSNP:146801142
complement(1081)-g, cdbSNP:143578698
complement(1146..1147)-, tdbSNP:35529212
complement(1169)-g, cdbSNP:57058289
complement(1203)-t, cdbSNP:79572748
complement(1227)-t, cdbSNP:374330147
complement(1234..1235)-, ac, acacacdbSNP:201282122
1235..1238+, gtgtdbSNP:397803881
complement(1235..1236)-, acdbSNP:67554265
complement(1240..1243)-, cacadbSNP:141886537
complement(1244..1245)-, cadbSNP:140026796
complement(1246..1249)-, cacadbSNP:147451294
1251..1254+, gtgtdbSNP:3837692
complement(1254..1255)-, acdbSNP:138882836
complement(1255)-g, cdbSNP:201508256
complement(1381)-g, adbSNP:148629656
complement(1487)-t, cdbSNP:114833125
complement(1521)-c, adbSNP:371015093
complement(1526)-g, adbSNP:369544907
complement(1529)-g, cdbSNP:147171499
complement(1740)-g, cdbSNP:144976448
complement(1742)-t, cdbSNP:187120286
complement(1761)-t, g, cdbSNP:111879561
complement(1784)-t, cdbSNP:8033190
complement(1800)-g, adbSNP:183475561
complement(1819)-g, adbSNP:369225795
1911+c, tdbSNP:8142
complement(1930)-t, cdbSNP:371702565
complement(1940)-t, gdbSNP:139463313
complement(2028)-c, adbSNP:114551417
complement(2046)-c, adbSNP:368689049
complement(2094)-, tdbSNP:71455583
complement(2109)-g, adbSNP:6494720
complement(2117..2118)-, cdbSNP:141489068
complement(2197)-t, cdbSNP:147362516
complement(2233)-t, gdbSNP:377239919
complement(2234)-g, adbSNP:189721599
Gene SymbolCLN6
Gene SynonymCLN4A; HsT18960; nclf
Chromosome15
Locus Map15q23
Title CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family .
Author Bouhouche A, Regragui W, El Fahime E, Bouslam N, Tazi-Ahnini R, Melloul M, Benomar A and Yahyaoui M.
Journal Indian J Pediatr 80 (8), 694-696 (2013)
Title Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies .
Author
Journal Am J Psychiatry 170 (2), 207-217 (2013)
Title Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy .
Author Andrade DM, Paton T, Turnbull J, Marshall CR, Scherer SW and Minassian BA.
Journal Pediatr. Neurol. 47 (3), 205-208 (2012)
Title Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6 .
Author Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M and Berkovic SF.
Journal Am. J. Hum. Genet. 88 (5), 566-573 (2011)
Title The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein .
Author Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE and Mole SE.
Journal Am. J. Hum. Genet. 70 (2), 537-542 (2002)
Title Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs) .
Author Holopainen JM, Saarikoski J, Kinnunen PK and Jarvela I.
Journal Eur. J. Biochem. 268 (22), 5851-5856 (2001)
Title Batten's disease: clues to neuronal protein catabolism in lysosomes .
Author Dawson G and Cho S.
Journal J. Neurosci. Res. 60 (2), 133-140 (2000)
Title Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23 .
Author Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM and Williams RE.
Journal Hum. Mol. Genet. 6 (4), 591-595 (1997)
Title Neuronal Ceroid-Lipofuscinoses .
Author Mole,S.E. and Williams,R.E.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dystonia Overview .
Author Klein,C., Marras,C. and Munchau,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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