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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_017882 Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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RefSeq Version NM_017882.2, 209571480
Length 2258 bp
Structure linear
Update Date 17-APR-2013
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)249..251
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
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
complement(163)-g, adbSNP:3743088
complement(175)-g, cdbSNP:154774636
complement(192)-t, cdbSNP:112239768
complement(258)-dbSNP:
complement(258)-t, cdbSNP:146198681
complement(273)-g, cdbSNP:142260866
complement(294)-t, cdbSNP:147623032
complement(297)-t, cdbSNP:154774635
complement(308)-g, cdbSNP:154774640
complement(358)-dbSNP:
complement(358)-t, cdbSNP:154774633
complement(371)-t, gdbSNP:146980624
complement(372)-t, g, cdbSNP:104894483
complement(379)-c, adbSNP:199658226
complement(389)-g, cdbSNP: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
complement(466)-g, adbSNP:154774634
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
complement(526)-g, adbSNP:104894484
complement(604)-g, adbSNP:154774638
complement(618..620)-, atcdbSNP:121908080
complement(669..671)-dbSNP:
complement(669..671)-, tatdbSNP:121908079
complement(743)-dbSNP:
complement(743)-g, adbSNP:144507672
complement(821)-g, cdbSNP:104894486
complement(870)-dbSNP:
complement(870)-t, c, adbSNP:154774637
complement(881)-c, adbSNP:149262877
complement(899)-g, adbSNP:140653271
complement(912)-g, adbSNP:145746878
complement(925)-t, cdbSNP:143781303
complement(927)-t, cdbSNP:151295143
complement(933)-t, cdbSNP:150363441
complement(956)-g, adbSNP:140319056
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(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(1234..1235)-, acdbSNP:201282122
complement(1248..1251)-, cacadbSNP:141886537
complement(1249..1252)-, acacdbSNP:72082753
complement(1250..1253)-, cacadbSNP:147451294
complement(1251..1254)-, gtgt, gtgtgtdbSNP:3837692
complement(1251..1254)-, acacdbSNP:59441996
complement(1252..1253)-, cadbSNP:140026796
complement(1253..1254)-, acdbSNP:67554265
complement(1254..1255)-, acdbSNP:138882836
complement(1255)-g, cdbSNP:201508256
complement(1381)-g, adbSNP:148629656
complement(1487)-t, cdbSNP:114833125
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(1911)-t, cdbSNP:8142
complement(1940)-t, gdbSNP:139463313
complement(2028)-c, adbSNP:114551417
complement(2094)-, tdbSNP:71455583
complement(2109)-g, adbSNP:6494720
complement(2117..2118)-, cdbSNP:141489068
complement(2197)-t, cdbSNP:147362516
complement(2234)-g, adbSNP:189721599
Gene SymbolCLN6
Gene SynonymCLN4A; HsT18960; nclf
Chromosome15
Locus Map15q23
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_017882 Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA. In-stock $348.00 $299.00 10
Title Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy .
Author Andrade,D.M., Paton,T., Turnbull,J., Marshall,C.R., Scherer,S.W. and Minassian,B.A.
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,K.R., Damiano,J., Franceschetti,S., Canafoglia,L., Bromhead,C.J., Andermann,E., Vears,D.F., Cossette,P., Rajagopalan,S., McDougall,A., Sofia,V., Farrell,M., Aguglia,U., Zini,A., Meletti,S., Morbin,M., Mullen,S., Andermann,F., Mole,S.E., Bahlo,M. and Berkovic,S.F.
Journal Am. J. Hum. Genet. 88 (5), 566-573 (2011)
Title Distinct early molecular responses to mutations causing vLINCL and .
Author Cao,Y., Staropoli,J.F., Biswas,S., Espinola,J.A., MacDonald,M.E., Lee,J.M. and Cotman,S.L.
Journal PLoS ONE 6 (2), E17118 (2011)
Title Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6 .
Author Kurze,A.K., Galliciotti,G., Heine,C., Mole,S.E., Quitsch,A. and Braulke,T.
Journal Hum. Mutat. 31 (2), E1163-E1174 (2010)
Title Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia .
Author Al-Muhaizea,M.A., Al-Hassnan,Z.N. and Chedrawi,A.
Journal Pediatr. Neurol. 41 (1), 74-76 (2009)
Title Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse .
Author Gao,H., Boustany,R.M., Espinola,J.A., Cotman,S.L., Srinidhi,L., Antonellis,K.A., Gillis,T., Qin,X., Liu,S., Donahue,L.R., Bronson,R.T., Faust,J.R., Stout,D., Haines,J.L., Lerner,T.J. and MacDonald,M.E.
Journal Am. J. Hum. Genet. 70 (2), 324-335 (2002)
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,R.B., Sharp,J.D., Schultz,R.A., Joslin,J.M., Williams,R.E. and Mole,S.E.
Journal Am. J. Hum. Genet. 70 (2), 537-542 (2002)
Title Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs) .
Author Holopainen,J.M., Saarikoski,J., Kinnunen,P.K. 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,J.D., Wheeler,R.B., Lake,B.D., Savukoski,M., Jarvela,I.E., Peltonen,L., Gardiner,R.M. and Williams,R.E.
Journal Hum. Mol. Genet. 6 (4), 591-595 (1997)


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