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Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu25890 Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu25890C Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

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_018941.3, 148277059
Length 861 bp
Update Date 24-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.
Product protein CLN8

Summary: 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].

RefSeq NP_061764.2
CDS 306..1166
Misc Feature(1)294..296
Misc Feature(2)366..428
Misc Feature(3)366..428
Misc Feature(4)489..557
Misc Feature(5)495..1091
Misc Feature(6)612..674
Misc Feature(7)696..758
Misc Feature(8)981..1043
Misc Feature(9)1152..1163
Exon (1)1..182
Gene Synonym:C8orf61; EPMR
Exon (2)183..848
Gene Synonym:C8orf61; EPMR
Exon (3)849..7169
Gene Synonym:C8orf61; EPMR
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Position Chain Variation Link
21..22+, gdbSNP:367622630
26..27+, gdbSNP:71209699
49+c, gdbSNP:71499040
180+c, tdbSNP:113428006
193+g, tdbSNP:374723418
216+a, gdbSNP:184346819
260+c, tdbSNP:374522261
266+a, gdbSNP:370711548
306+a, gdbSNP:143730802
316+c, tdbSNP:147181589
317+a, gdbSNP:368792081
320+c, tdbSNP:374597781
321+g, tdbSNP:200999640
351+a, cdbSNP:386834129
355+a, g, tdbSNP:148668081
358+a, tdbSNP:142104002
366..367+, gdbSNP:34238807
371+, gdbSNP:386834137
375+c, gdbSNP:104894064
389+a, gdbSNP:148763945
393+c, gdbSNP:137852883
393+, gdbSNP:386834139
395+c, tdbSNP:376382403
404+c, tdbSNP:150754905
417+a, gdbSNP:370199508
422+g, tdbSNP:201670636
431+c, tdbSNP:192196274
466+a, gdbSNP:372268977
485..487+, gaadbSNP:386834123
492+c, tdbSNP:201327850
505+c, tdbSNP:373957283
512+a, gdbSNP:368365607
514+a, gdbSNP:386834124
532+a, gdbSNP:386834125
551+a, gdbSNP:144015378
573+c, gdbSNP:146424314
579+c, tdbSNP:34030778
584+c, tdbSNP:372313992
585+a, gdbSNP:143918546
595+a, gdbSNP:116605307
605+a, gdbSNP:148988002
623+c, tdbSNP:184988046
625+g, tdbSNP:386834126
628+c, tdbSNP:143701028
629+a, gdbSNP:148124161
638+a, gdbSNP:377273687
658+a, cdbSNP:140934218
679+a, gdbSNP:142269885
681+g, tdbSNP:139041775
690+c, tdbSNP:143694317
695+a, gdbSNP:181971599
711+g, tdbSNP:187297173
716+c, gdbSNP:147224140
720+c, tdbSNP:386834127
760+a, gdbSNP:138581191
769+c, tdbSNP:386834128
775+a, gdbSNP:149308952
778+a, gdbSNP:386834130
804+g, tdbSNP:144495588
808+c, tdbSNP:374031055
812+c, tdbSNP:386834131
814+c, tdbSNP:188259026
818+c, gdbSNP:376910635
827+c, tdbSNP:148417620
851+a, gdbSNP:144047076
860+c, tdbSNP:145929862
867..868+, ctdbSNP:386834132
886+a, gdbSNP:386834133
887+a, gdbSNP:139824802
904+c, tdbSNP:368646951
915+c, tdbSNP:104894060
916+g, tdbSNP:386834134
924+c, gdbSNP:151334741
942..944+, tggdbSNP:386834135
944+g, tdbSNP:113304303
963+c, gdbSNP:370747886
966+a, gdbSNP:386834136
976+c, gdbSNP:368824736
985+a, tdbSNP:368561820
990+c, gdbSNP:150047904
1011+c, gdbSNP:371830719
1013+c, tdbSNP:200760828
1030+c, tdbSNP:138821993
1031+a, gdbSNP:200529220
1048+a, gdbSNP:145349613
1071+c, gdbSNP:386834138
1081+a, gdbSNP:201956727
1082+c, tdbSNP:34814682
1084+c, tdbSNP:146579299
1094+c, gdbSNP:28940569
1106+a, gdbSNP:374652311
1111+a, tdbSNP:139003032
1136+c, tdbSNP:200083273
1148+a, gdbSNP:367703234
1173+c, tdbSNP:369800486
1177+c, tdbSNP:372568348
1186+a, gdbSNP:371428999
1190+c, tdbSNP:201638390
1191+a, gdbSNP:200904267
1210+c, tdbSNP:139429870
1229+a, gdbSNP:370569700
1300+c, tdbSNP:375686311
1488+a, gdbSNP:112833620
1531+c, tdbSNP:368210927
1540+c, tdbSNP:112374824
1545+a, gdbSNP:140356867
1559+a, gdbSNP:113085984
1563+c, tdbSNP:147763974
1650+c, tdbSNP:11778824
1653+c, tdbSNP:113479052
1658+c, tdbSNP:375353666
1722+c, tdbSNP:113877645
1754+c, tdbSNP:189185705
1882+a, gdbSNP:373628276
1947+a, gdbSNP:1137514
1955+a, gdbSNP:199513352
1964+a, cdbSNP:76273248
2015..2016+, tggdbSNP:5888910
2016..2017+, tggdbSNP:141641935
2021..2022+, tggdbSNP:397698661
2051+a, gdbSNP:371531678
2058+a, cdbSNP:150128397
2098+a, cdbSNP:138680632
2208+c, gdbSNP:113649874
2266+a, gdbSNP:1133517
complement(2280)-t, cdbSNP:145067893
2419+a, cdbSNP:375844751
2552..2553+, tgdbSNP:10638018
2553..2554+, tgdbSNP:368039507
2554+g, tdbSNP:200779759
2570..2571+, gtdbSNP:72218760
2580..2581+, tgdbSNP:398006927
2588+c, tdbSNP:181587844
2634+a, gdbSNP:186560083
2659+c, tdbSNP:138894323
2660+a, gdbSNP:190472362
2661+c, tdbSNP:112688948
2681+g, tdbSNP:149346935
2715+c, gdbSNP:143679376
2784+a, cdbSNP:62476924
2799+a, gdbSNP:374346831
2836+c, tdbSNP:148153870
2895+a, gdbSNP:111709829
2925+a, gdbSNP:180870105
2965+c, gdbSNP:142012947
3040+a, gdbSNP:377434706
3087+c, gdbSNP:370222132
3126+a, gdbSNP:73541034
complement(3127)-t, g, c, adbSNP:78155116
3128+c, tdbSNP:115698196
3301+g, tdbSNP:73672963
3377+g, tdbSNP:113843633
3392+c, tdbSNP:185961111
3724+c, tdbSNP:191236698
3725+a, gdbSNP:140941110
3738+a, gdbSNP:182644461
3767+c, tdbSNP:375208948
3797+c, tdbSNP:143241140
3820+a, gdbSNP:185372597
3822+c, gdbSNP:147374445
3841+a, tdbSNP:369614401
3913+c, tdbSNP:190665678
3924+c, tdbSNP:118022735
3930+a, gdbSNP:79781357
3935+a, tdbSNP:111988802
3950+c, tdbSNP:113458667
3958+, adbSNP:112824338
3958+a, gdbSNP:73541035
3984+a, tdbSNP:182749051
4005+c, gdbSNP:188798597
4006+c, tdbSNP:139600202
4035..4036+, gdbSNP:34424646
4096+c, tdbSNP:376610687
4288+c, tdbSNP:10089616
4366+g, tdbSNP:193228611
4400+a, gdbSNP:149877204
4477+a, gdbSNP:368257540
4558+c, gdbSNP:112397747
4613+a, gdbSNP:144894950
4622+c, tdbSNP:148680284
4657+c, gdbSNP:10089222
4679+c, gdbSNP:182633275
4840+c, tdbSNP:55742804
4883+a, cdbSNP:74593185
4968+c, tdbSNP:140330969
4992+g, tdbSNP:367799920
5013+c, gdbSNP:7827009
5032+c, tdbSNP:188005643
5100+a, gdbSNP:375047450
5117+a, gdbSNP:117945019
5157+a, gdbSNP:113413095
5189+a, cdbSNP:7827285
complement(5192)-g, adbSNP:145494521
5302+a, cdbSNP:146813375
5361+g, tdbSNP:368476596
5391+c, tdbSNP:78505577
5432+c, gdbSNP:371079782
5488+c, tdbSNP:118000123
5496+a, gdbSNP:192236968
5557+a, gdbSNP:117588996
5582+c, tdbSNP:184340330
5593+, gdbSNP:139270315
5609+g, tdbSNP:140524201
5617+a, gdbSNP:150391413
5632+a, gdbSNP:138156046
5633+c, gdbSNP:116856439
5688+c, tdbSNP:149632384
5690+c, tdbSNP:55915521
5698+a, tdbSNP:146897459
5699+c, tdbSNP:375136015
5701+c, tdbSNP:188634468
5726+g, tdbSNP:192186917
5740+a, gdbSNP:139385174
5778+c, tdbSNP:75237112
5795+g, tdbSNP:184354344
5802+c, tdbSNP:56270086
5852+a, gdbSNP:11995303
5866+c, tdbSNP:143200025
5867+a, gdbSNP:190471975
5915+c, gdbSNP:111861349
5937+a, tdbSNP:111288051
5938+c, tdbSNP:34731143
5946+a, gdbSNP:78148111
5960+c, gdbSNP:35929579
5961+a, gdbSNP:112785178
5982+a, tdbSNP:60475454
6006+a, gdbSNP:111717072
6027+a, tdbSNP:113242251
6050+c, gdbSNP:113710299
6051+a, gdbSNP:112953617
6072+a, tdbSNP:113355632
6134+a, gdbSNP:11136425
6196..6206+, gtaccggtcagdbSNP:200604810
6231+a, gdbSNP:112400840
6246+a, gdbSNP:112257502
6247+c, gdbSNP:369510341
6252+a, tdbSNP:112043480
6261+a, gdbSNP:112839236
6276+a, gdbSNP:111375917
6290+c, tdbSNP:371953404
6294+a, cdbSNP:187124798
6297+a, tdbSNP:112513389
6306+a, gdbSNP:111334702
6314+g, tdbSNP:113350022
6321+a, gdbSNP:111740304
6335+c, tdbSNP:35380336
6336+a, gdbSNP:201444026
6359+a, gdbSNP:189561899
6362+a, gdbSNP:150500606
6374+a, gdbSNP:180814168
6420+c, tdbSNP:111509273
6469+c, gdbSNP:189934048
6484+a, gdbSNP:374581863
6531+a, tdbSNP:115071842
6607+a, gdbSNP:182970473
6665+a, gdbSNP:186838004
6669+c, gdbSNP:73672964
6746+a, gdbSNP:77024081
6833+g, tdbSNP:191518541
6879+c, tdbSNP:374974372
complement(6885)-g, cdbSNP:3812477
6992+a, tdbSNP:184167505
6995+c, tdbSNP:371248890
complement(7078)-g, adbSNP:149674595
Gene SymbolCLN8
Gene SynonymC8orf61; EPMR
Locus Map8p23
Title CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches .
Author Haddad SE, Khoury M, Daoud M, Kantar R, Harati H, Mousallem T, Alzate O, Meyer B and Boustany RM.
Journal Electrophoresis 33 (24), 3798-3809 (2012)
Title Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation .
Author Mahajnah M and Zelnik N.
Journal Pediatr. Neurol. 47 (4), 303-305 (2012)
Title Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation .
Author Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM and Mistry PK.
Journal Am. J. Hematol. 87 (4), 377-383 (2012)
Title Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis .
Author Reinhardt K, Grapp M, Schlachter K, Bruck W, Gartner J and Steinfeld R.
Journal Clin. Genet. 77 (1), 79-85 (2010)
Title The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum .
Author Lonka L, Kyttala A, Ranta S, Jalanko A and Lehesjoki AE.
Journal Hum. Mol. Genet. 9 (11), 1691-1697 (2000)
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 The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 .
Author Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC and Lehesjoki AE.
Journal Nat. Genet. 23 (2), 233-236 (1999)
Title Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p .
Author Ranta S, Lehesjoki AE, Hirvasniemi A, Weissenbach J, Ross B, Leal SM, de la Chapelle A and Gilliam TC.
Journal Genome Res. 6 (5), 351-360 (1996)
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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