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Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_152778 Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_152778.2, 199560897
Length 4562 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA.
Product major facilitator superfamily domain-containing protein 8
Comment

Summary: This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008].


##Evidence-Data-START## Transcript exon combination :: BC029503.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_689991.1
CDS 164..1720
Misc Feature(1)74..76
Misc Feature(2)278..>721
Misc Feature(3)278..>721
Misc Feature(4)284..346
Misc Feature(5)287..1237
Misc Feature(6)386..448
Misc Feature(7)479..541
Misc Feature(8)557..619
Misc Feature(9)683..745
Misc Feature(10)797..859
Misc Feature(11)962..1024
Misc Feature(12)1076..1138
Misc Feature(13)1175..1237
Misc Feature(14)<1379..1672
Misc Feature(15)<1379..>1672
Misc Feature(16)1400..1462
Misc Feature(17)1517..1579
Misc Feature(18)1610..1672
Exon (1)1..88
Gene:MFSD8
Gene Synonym:CLN7
Exon (2)89..225
Gene:MFSD8
Gene Synonym:CLN7
Exon (3)226..317
Gene:MFSD8
Gene Synonym:CLN7
Exon (4)318..361
Gene:MFSD8
Gene Synonym:CLN7
Exon (5)362..602
Gene:MFSD8
Gene Synonym:CLN7
Exon (6)603..716
Gene:MFSD8
Gene Synonym:CLN7
Exon (7)717..861
Gene:MFSD8
Gene Synonym:CLN7
Exon (8)862..917
Gene:MFSD8
Gene Synonym:CLN7
Exon (9)918..1026
Gene:MFSD8
Gene Synonym:CLN7
Exon (10)1027..1161
Gene:MFSD8
Gene Synonym:CLN7
Exon (11)1162..1265
Gene:MFSD8
Gene Synonym:CLN7
Exon (12)1266..1513
Gene:MFSD8
Gene Synonym:CLN7
Exon (13)1514..4545
Gene:MFSD8
Gene Synonym:CLN7
Translation MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSI WPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCL YAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGF ILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAW TQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQ FPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFL TSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE
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Position Chain Variation Link
complement(9)-dbSNP:
complement(9)-g, adbSNP:139797763
complement(64)-g, cdbSNP:74561222
complement(143)-dbSNP:
complement(143)-g, cdbSNP:200352565
complement(177)-g, cdbSNP:139409959
complement(200)-t, gdbSNP:150892838
complement(226)-dbSNP:
complement(226)-t, gdbSNP:201926015
complement(229)-t, adbSNP:145529594
complement(265)-g, adbSNP:139212190
complement(267)-t, cdbSNP:146596875
complement(269)-g, adbSNP:200001979
complement(278)-t, adbSNP:201739608
complement(279)-t, adbSNP:140349255
complement(341)-dbSNP:
complement(341)-t, cdbSNP:143902749
complement(354)-g, adbSNP:113960067
complement(369)-dbSNP:
complement(369)-g, adbSNP:147750747
complement(382)-t, cdbSNP:143654391
complement(472)-t, adbSNP:148916499
complement(489)-c, adbSNP:11732377
complement(495)-g, adbSNP:145633957
complement(505)-g, adbSNP:201905099
complement(506)-t, cdbSNP:183450731
complement(521)-g, cdbSNP:144845312
complement(525)-g, adbSNP:118203978
complement(535)-g, adbSNP:141031338
complement(572)-t, cdbSNP:146479250
complement(574)-g, adbSNP:201652718
complement(696)-dbSNP:
complement(696)-g, adbSNP:201368623
complement(714)-g, adbSNP:201976338
complement(736)-dbSNP:
complement(736)-t, cdbSNP:115275192
complement(753)-t, cdbSNP:28544073
complement(819)-g, adbSNP:112734134
complement(821)-g, cdbSNP:142063476
complement(840)-g, adbSNP:200591471
complement(907)-dbSNP:
complement(907)-c, adbSNP:199555198
complement(972)-dbSNP:
complement(972)-g, adbSNP:200284184
complement(980)-t, cdbSNP:144848697
complement(981)-t, cdbSNP:143288262
complement(1003)-t, cdbSNP:199982542
complement(1037)-dbSNP:
complement(1037)-g, adbSNP:200631121
complement(1044)-t, g, adbSNP:140948465
complement(1049)-t, cdbSNP:147295085
complement(1057)-t, gdbSNP:118203977
complement(1080)-g, adbSNP:200971312
complement(1092)-g, adbSNP:118203975
complement(1097)-t, cdbSNP:77098161
complement(1124)-t, cdbSNP:76506918
complement(1141)-t, cdbSNP:138219028
complement(1169)-dbSNP:
complement(1169)-g, cdbSNP:150418024
complement(1173)-t, cdbSNP:200386040
complement(1198)-g, adbSNP:141422574
complement(1204)-t, cdbSNP:148291156
complement(1299)-dbSNP:
complement(1299)-g, adbSNP:191172038
complement(1316)-g, cdbSNP:11098943
complement(1368)-g, adbSNP:200745039
1398+c, tdbSNP:267607235
complement(1431)-g, adbSNP:3733319
complement(1449)-g, adbSNP:118203976
complement(1450)-g, adbSNP:138072045
complement(1474)-g, cdbSNP:145453022
complement(1483)-t, cdbSNP:148864710
complement(1498)-t, cdbSNP:145518709
complement(1540)-dbSNP:
complement(1540)-t, cdbSNP:185047041
complement(1638)-g, adbSNP:183448311
complement(1643)-g, adbSNP:149683848
complement(1681)-g, adbSNP:140732035
complement(1826)-t, cdbSNP:185907899
complement(1978)-t, gdbSNP:151190415
complement(2147)-g, cdbSNP:142139835
complement(2183)-t, adbSNP:181696565
complement(2253)-t, cdbSNP:11940642
complement(2395)-g, adbSNP:148636320
complement(2514)-, tadbSNP:3830330
complement(2867)-t, cdbSNP:189901544
complement(3000)-t, adbSNP:146441639
complement(3014)-c, adbSNP:76614198
complement(3235)-t, adbSNP:74590222
complement(3285)-g, adbSNP:113242138
complement(3324)-t, cdbSNP:139066500
complement(3340)-t, gdbSNP:146398570
complement(3414)-t, cdbSNP:149424676
complement(3514)-c, adbSNP:79783621
complement(3574)-t, adbSNP:186704095
complement(3726)-t, gdbSNP:181240021
complement(3819)-g, cdbSNP:188459520
complement(3824)-g, adbSNP:139930263
complement(3874)-c, adbSNP:183601926
complement(3918..3923)-, ttaagtdbSNP:147020536
complement(3920..3924)-, gttaadbSNP:200765897
complement(3938)-g, adbSNP:60807717
complement(4042)-t, cdbSNP:181941949
complement(4089)-g, cdbSNP:150664430
complement(4106)-, gdbSNP:143272176
complement(4125)-t, cdbSNP:11938181
complement(4150)-g, cdbSNP:141923297
complement(4184)-g, adbSNP:114689638
complement(4185)-t, cdbSNP:72616968
complement(4378)-t, adbSNP:138394198
complement(4409)-g, adbSNP:189321020
Gene SymbolMFSD8
Gene SynonymCLN7
Chromosome4
Locus Map4q28.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_152778 Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA. In-stock $509.00 $460.00 12
Title Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis .
Author Sharifi,A., Kousi,M., Sagne,C., Bellenchi,G.C., Morel,L., Darmon,M., Hulkova,H., Ruivo,R., Debacker,C., El Mestikawy,S., Elleder,M., Lehesjoki,A.E., Jalanko,A., Gasnier,B. and Kyttala,A.
Journal Hum. Mol. Genet. 19 (22), 4497-4514 (2010)
Title Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging .
Author Aldahmesh,M.A., Al-Hassnan,Z.N., Aldosari,M. and Alkuraya,F.S.
Journal Neurogenetics 10 (4), 307-311 (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 Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis .
Author Aiello,C., Terracciano,A., Simonati,A., Discepoli,G., Cannelli,N., Claps,D., Crow,Y.J., Bianchi,M., Kitzmuller,C., Longo,D., Tavoni,A., Franzoni,E., Tessa,A., Veneselli,E., Boldrini,R., Filocamo,M., Williams,R.E., Bertini,E.S., Biancheri,R., Carrozzo,R., Mole,S.E. and Santorelli,F.M.
Journal Hum. Mutat. 30 (3), E530-E540 (2009)
Title A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis .
Author Stogmann,E., El Tawil,S., Wagenstaller,J., Gaber,A., Edris,S., Abdelhady,A., Assem-Hilger,E., Leutmezer,F., Bonelli,S., Baumgartner,C., Zimprich,F., Strom,T.M. and Zimprich,A.
Journal Neurogenetics 10 (1), 73-77 (2009)
Title The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter .
Author Siintola,E., Topcu,M., Aula,N., Lohi,H., Minassian,B.A., Paterson,A.D., Liu,X.Q., Wilson,C., Lahtinen,U., Anttonen,A.K. and Lehesjoki,A.E.
Journal Am. J. Hum. Genet. 81 (1), 136-146 (2007)
Title Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8 .
Author Mitchell,W.A., Wheeler,R.B., Sharp,J.D., Bate,S.L., Gardiner,R.M., Ranta,U.S., Lonka,L., Williams,R.E., Lehesjoki,A.E. and Mole,S.E.
Journal Eur. J. Paediatr. Neurol. 5 (SUPPL A), 21-27 (2001)
Title A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7 .
Author Wheeler,R.B., Sharp,J.D., Mitchell,W.A., Bate,S.L., Williams,R.E., Lake,B.D. and Gardiner,R.M.
Journal Mol. Genet. Metab. 66 (4), 337-338 (1999)


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