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


RefSeq Accession Definition Services Price Order
NM_018941 Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA. ORF Sequence $249.69
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RefSeq Version NM_018941.3, 148277059
Length 7185 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.
Product protein CLN8
Comment

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:CLN8
Gene Synonym:C8orf61; EPMR
Exon (2)183..848
Gene:CLN8
Gene Synonym:C8orf61; EPMR
Exon (3)849..7169
Gene:CLN8
Gene Synonym:C8orf61; EPMR
Translation MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVARE KVFWDLAATRAVFGVQSTAAGLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVA VHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLAMTTLLLEMSTPFTCVSWMLL KAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP
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Position Chain Variation Link
21..22+dbSNP:
21..22+, gdbSNP:71209699
49+c, gdbSNP:71499040
180+c, tdbSNP:113428006
216+dbSNP:
216+a, gdbSNP:184346819
306+a, gdbSNP:143730802
316+c, tdbSNP:147181589
321+g, tdbSNP:200999640
355+a, g, tdbSNP:148668081
358+a, tdbSNP:142104002
366..367+, gdbSNP:34238807
375+c, gdbSNP:104894064
389+a, gdbSNP:148763945
393+c, gdbSNP:137852883
404+c, tdbSNP:150754905
422+g, tdbSNP:201670636
431+c, tdbSNP:192196274
443+c, tdbSNP:139030302
492+c, tdbSNP:201327850
551+a, gdbSNP:144015378
573+c, gdbSNP:146424314
579+c, tdbSNP:34030778
585+a, gdbSNP:143918546
595+a, gdbSNP:116605307
605+a, gdbSNP:148988002
623+c, tdbSNP:184988046
628+c, tdbSNP:143701028
629+a, gdbSNP:148124161
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
760+a, gdbSNP:138581191
775+a, gdbSNP:149308952
804+g, tdbSNP:144495588
814+c, tdbSNP:188259026
827+c, tdbSNP:148417620
851+dbSNP:
851+a, gdbSNP:144047076
860+c, tdbSNP:145929862
887+a, gdbSNP:139824802
903+a, gdbSNP:143880754
915+c, tdbSNP:104894060
924+c, gdbSNP:151334741
936+a, tdbSNP:140545683
944+g, tdbSNP:113304303
990+c, gdbSNP:150047904
1013+c, tdbSNP:200760828
1030+c, tdbSNP:138821993
1031+a, gdbSNP:200529220
1048+a, gdbSNP:145349613
1081+a, gdbSNP:201956727
1082+c, tdbSNP:34814682
1084+c, tdbSNP:146579299
1094+c, gdbSNP:28940569
1111+a, tdbSNP:139003032
1136+c, tdbSNP:200083273
1190+c, tdbSNP:201638390
1191+a, gdbSNP:200904267
1210+c, tdbSNP:139429870
1488+a, gdbSNP:112833620
1540+c, tdbSNP:112374824
1545+a, gdbSNP:140356867
1559+a, gdbSNP:113085984
1563+c, tdbSNP:147763974
1650+c, tdbSNP:11778824
1653+c, tdbSNP:113479052
1722+c, tdbSNP:113877645
1754+c, tdbSNP:189185705
1947+a, gdbSNP:1137514
1955+a, gdbSNP:199513352
1964+a, cdbSNP:76273248
2015..2016+, tggdbSNP:75602222
2016..2017+, tggdbSNP:141641935
2021..2022+, tggdbSNP:5888910
2058+a, cdbSNP:150128397
2098+a, cdbSNP:138680632
2208+c, gdbSNP:113649874
2266+a, gdbSNP:1133517
2280+c, tdbSNP:145067893
2552..2553+, tgdbSNP:10638018
2553..2554+, tgdbSNP:33991173
2554..2555+, gtdbSNP:72218760
2554+g, tdbSNP:200779759
2580..2581+, tgdbSNP:71209702
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
2836+c, tdbSNP:148153870
2895+a, gdbSNP:111709829
2925+a, gdbSNP:180870105
2965+c, gdbSNP:142012947
3126+a, gdbSNP:73541034
3127+a, c, g, tdbSNP: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
3797+c, tdbSNP:143241140
3820+a, gdbSNP:185372597
3822+c, gdbSNP:147374445
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
4288+c, tdbSNP:10089616
4366+g, tdbSNP:193228611
4400+a, gdbSNP:149877204
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
5013+c, gdbSNP:7827009
5032+c, tdbSNP:188005643
5117+a, gdbSNP:117945019
5157+a, gdbSNP:113413095
5189+a, cdbSNP:7827285
5192+a, gdbSNP:145494521
5302+a, cdbSNP:146813375
5391+c, tdbSNP:78505577
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
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
6252+a, tdbSNP:112043480
6261+a, gdbSNP:112839236
6276+a, gdbSNP:111375917
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
6531+a, tdbSNP:115071842
6607+a, gdbSNP:182970473
6665+a, gdbSNP:186838004
6669+c, gdbSNP:73672964
6746+a, gdbSNP:77024081
6833+g, tdbSNP:191518541
6885+c, gdbSNP:3812477
6992+a, tdbSNP:184167505
7078+a, gdbSNP:149674595
Gene SymbolCLN8
Gene SynonymC8orf61; EPMR
Chromosome8
Locus Map8p23
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_018941 Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA. Full Length $3233.25
ORF Sequence $249.69
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,C.K., Stein,P.B., Liu,J., Wang,Z., Yang,R., Cho,J.H., Gregersen,P.K., Aerts,J.M., Zhao,H., Pastores,G.M. and Mistry,P.K.
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 A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function .
Author Vantaggiato,C., Redaelli,F., Falcone,S., Perrotta,C., Tonelli,A., Bondioni,S., Morbin,M., Riva,D., Saletti,V., Bonaglia,M.C., Giorda,R., Bresolin,N., Clementi,E. and Bassi,M.T.
Journal Hum. Mutat. 30 (7), 1104-1116 (2009)
Title Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis .
Author Kousi,M., Siintola,E., Dvorakova,L., Vlaskova,H., Turnbull,J., Topcu,M., Yuksel,D., Gokben,S., Minassian,B.A., Elleder,M., Mole,S.E. and Lehesjoki,A.E.
Journal Brain 132 (PT 3), 810-819 (2009)
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,A.E.
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 Northern epilepsy, a new member of the NCL family .
Author Ranta,S. and Lehesjoki,A.E.
Journal Neurol. Sci. 21 (3 SUPPL), S43-S47 (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,M.B., Bonaldo,M.F., Hirvasniemi,A., de la Chapelle,A., Gilliam,T.C. and Lehesjoki,A.E.
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,A.E., Hirvasniemi,A., Weissenbach,J., Ross,B., Leal,S.M., de la Chapelle,A. and Gilliam,T.C.
Journal Genome Res. 6 (5), 351-360 (1996)

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