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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 25-MAY-2014
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].

RefSeq NP_689991.1
CDS 164..1720
Misc Feature(1)74..76
Misc Feature(2)200..205
Misc Feature(3)200..205
Misc Feature(4)278..1672
Misc Feature(5)284..346
Misc Feature(6)287..1570
Misc Feature(7)order(320..322,329..337,341..346,401..403,410..415,
Misc Feature(8)386..448
Misc Feature(9)479..541
Misc Feature(10)557..619
Misc Feature(11)683..745
Misc Feature(12)797..859
Misc Feature(13)962..1024
Misc Feature(14)1076..1138
Misc Feature(15)1175..1237
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(125)-dbSNP:
complement(125)-g, cdbSNP:374912082
complement(127)-t, adbSNP:369032119
complement(137)-c, adbSNP:375020549
complement(143)-g, cdbSNP:200352565
complement(177)-g, cdbSNP:139409959
complement(197)-g, adbSNP:371882083
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, c, 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(381)-t, gdbSNP:377555060
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
525+a, gdbSNP:118203978
complement(535)-g, adbSNP:141031338
complement(572)-t, cdbSNP:146479250
complement(574)-g, adbSNP:201652718
complement(694)-dbSNP:
complement(694)-t, cdbSNP:376733427
complement(696)-g, adbSNP:201368623
complement(714)-g, adbSNP:201976338
complement(736)-dbSNP:
complement(736)-t, cdbSNP:115275192
complement(753)-t, cdbSNP:28544073
complement(755)-t, cdbSNP:377029630
complement(815)-t, cdbSNP:368614789
complement(819)-g, adbSNP:112734134
complement(821)-g, cdbSNP:142063476
complement(840)-g, adbSNP:200591471
complement(852)-g, adbSNP:375681665
complement(870)-dbSNP:
complement(870)-g, cdbSNP:371250204
complement(907)-c, adbSNP:199555198
complement(950)-dbSNP:
complement(950)-t, cdbSNP:374234685
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
1057+g, tdbSNP:118203977
complement(1074)-t, cdbSNP:371333586
complement(1080)-g, adbSNP:200971312
1092+a, gdbSNP:118203975
complement(1097)-t, cdbSNP:77098161
complement(1123)-g, adbSNP:376954943
complement(1124)-t, cdbSNP:76506918
complement(1141)-t, cdbSNP:138219028
complement(1169)-dbSNP:
complement(1169)-g, cdbSNP:150418024
complement(1172)-g, adbSNP:373923336
complement(1173)-t, cdbSNP:200386040
complement(1198)-g, adbSNP:141422574
complement(1204)-t, cdbSNP:148291156
complement(1231)-g, adbSNP:376258320
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
1449+a, gdbSNP:118203976
complement(1450)-g, adbSNP:138072045
complement(1474)-g, cdbSNP:145453022
complement(1483)-t, cdbSNP:148864710
complement(1498)-t, cdbSNP:145518709
complement(1508)-g, adbSNP:371428597
complement(1540)-dbSNP:
complement(1540)-t, cdbSNP:185047041
complement(1583)-g, cdbSNP:370663969
complement(1638)-g, adbSNP:183448311
complement(1643)-g, adbSNP:149683848
complement(1681)-g, adbSNP:140732035
complement(1723)-g, adbSNP:374487025
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(2513..2514)-, tadbSNP:375446797
complement(2867)-t, cdbSNP:189901544
complement(3000)-t, adbSNP:146441639
complement(3014)-c, adbSNP:76614198
complement(3054)-t, cdbSNP:377013243
3235+a, tdbSNP:74590222
complement(3285)-g, adbSNP:113242138
complement(3324)-t, cdbSNP:139066500
complement(3328)-t, gdbSNP:374830589
complement(3340)-t, gdbSNP:146398570
complement(3414)-t, cdbSNP:149424676
complement(3453)-t, cdbSNP:370726249
complement(3514)-c, adbSNP:79783621
complement(3514)-c, adbSNP:386452039
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(3938)-g, adbSNP:386451697
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
XM_005262893 PREDICTED: Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), transcript variant X1, mRNA. On-demand $699.00 18
XM_005262896 PREDICTED: Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), transcript variant X4, mRNA. On-demand $699.00 18
XM_005262897 PREDICTED: Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), transcript variant X5, mRNA. On-demand $699.00 18
XM_005262898 PREDICTED: Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), transcript variant X6, mRNA. On-demand $549.00 14
XM_005262900 PREDICTED: Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), transcript variant X8, mRNA. On-demand $399.00 14
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 GC, Morel L, Darmon M, Hulkova H, Ruivo R, Debacker C, El Mestikawy S, Elleder M, Lehesjoki AE, 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 MA, Al-Hassnan ZN, Aldosari M and Alkuraya FS.
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 BA, Elleder M, Mole SE and Lehesjoki AE.
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 YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE and Santorelli FM.
Journal Hum. Mutat. 30 (3), E530-E540 (2009)
Title Integral and associated lysosomal membrane proteins .
Author Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H, Elsasser HP, Mann M and Hasilik A.
Journal Traffic 8 (12), 1676-1686 (2007)
Title The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter .
Author Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK and Lehesjoki AE.
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 WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE and Mole SE.
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 RB, Sharp JD, Mitchell WA, Bate SL, Williams RE, Lake BD and Gardiner RM.
Journal Mol. Genet. Metab. 66 (4), 337-338 (1999)
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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