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Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001085428 Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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RefSeq Version NM_001085428.2, 313569798
Length 3935 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.
Product arylsulfatase A isoform b
Comment

Summary: The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010].


Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_001078897.1
CDS 263..1534
Misc Feature(1)179..181
Misc Feature(2)263..1333
Misc Feature(3)263..1333
Misc Feature(4)<287..1111
Exon (1)1..228
Gene:ARSA
Gene Synonym:MLD
Exon (2)229..469
Gene:ARSA
Gene Synonym:MLD
Exon (3)470..688
Gene:ARSA
Gene Synonym:MLD
Exon (4)689..858
Gene:ARSA
Gene Synonym:MLD
Exon (5)859..983
Gene:ARSA
Gene Synonym:MLD
Exon (6)984..1111
Gene:ARSA
Gene Synonym:MLD
Exon (7)1112..1214
Gene:ARSA
Gene Synonym:MLD
Exon (8)1215..3925
Gene:ARSA
Gene Synonym:MLD
Translation MGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRF LGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAF AHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTA IGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAP GVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVR GVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGG VAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPD PHA
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Position Chain Variation Link
complement(50)-dbSNP:
complement(50)-g, cdbSNP:6151406
complement(89)-g, adbSNP:188227227
complement(94)-g, cdbSNP:1051539
complement(219)-g, adbSNP:184511547
complement(237)-dbSNP:
complement(237)-t, cdbSNP:199476362
complement(247)-t, cdbSNP:6151410
complement(255)-t, cdbSNP:6151411
complement(260)-t, cdbSNP:199476352
complement(261)-g, adbSNP:74315458
complement(267)-g, adbSNP:74315460
complement(290)-g, cdbSNP:199476353
complement(294)-g, adbSNP:199476363
296..297+ct, tcdbSNP:199476371
complement(297)-t, cdbSNP:74315456
complement(306)-t, g, adbSNP:74315455
complement(365)-g, adbSNP:199476364
complement(374)-g, adbSNP:74315461
complement(414)-t, cdbSNP:121434215
complement(416)-g, c, adbSNP:60504011
complement(417)-t, cdbSNP:74315462
complement(422)-g, cdbSNP:199476358
complement(437)-g, cdbSNP:199476373
complement(453)-t, cdbSNP:199476375
complement(463)-t, cdbSNP:6151412
complement(464)-t, gdbSNP:199476365
complement(469)-g, cdbSNP:199476377
complement(471)-dbSNP:
complement(471)-g, adbSNP:74315463
complement(474)-t, g, cdbSNP:74315464
complement(476)-t, cdbSNP:199476348
complement(499)-t, cdbSNP:145299072
complement(510)-g, cdbSNP:74315465
complement(515)-g, adbSNP:74315466
complement(518)-g, adbSNP:74315271
complement(525)-g, adbSNP:199476381
complement(546)-t, gdbSNP:74315457
complement(552)-t, adbSNP:199476378
complement(568)-g, adbSNP:113209108
complement(580)-g, cdbSNP:199476372
complement(581)-c, adbSNP:199476374
complement(589)-t, gdbSNP:6151415
complement(595)-g, adbSNP:34457249
complement(596)-t, cdbSNP:144393886
complement(609)-t, cdbSNP:201794808
complement(612)-g, adbSNP:199476345
complement(623)-t, cdbSNP:62001867
complement(627)-t, cdbSNP:150533665
complement(628)-g, adbSNP:113990230
complement(640)-g, adbSNP:200182983
complement(644)-g, cdbSNP:199476341
complement(645)-t, cdbSNP:74315467
complement(660)-t, cdbSNP:148403406
complement(662)-t, gdbSNP:146173768
complement(663)-g, adbSNP:201251634
complement(665)-t, gdbSNP:199476383
complement(681)-t, cdbSNP:74315468
complement(684)-g, cdbSNP:138468395
complement(689)-dbSNP:
complement(689)-t, cdbSNP:199476354
complement(701)-c, adbSNP:74315469
complement(732)-t, cdbSNP:142142638
complement(740)-t, cdbSNP:74315470
complement(741)-g, adbSNP:199476366
complement(743)-g, adbSNP:74315471
complement(750)-t, cdbSNP:199476384
complement(759)-c, adbSNP:199476367
complement(762..763)-, tdbSNP:74315270
complement(767)-g, adbSNP:74315483
complement(773)-g, cdbSNP:80338819
complement(785)-t, cdbSNP:138850940
complement(807)-c, adbSNP:201470165
complement(829)-c, adbSNP:150222190
complement(830)-t, adbSNP:140966324
complement(831)-t, cdbSNP:74315472
complement(851)-t, gdbSNP:199476386
complement(855)-g, adbSNP:199476342
complement(866)-dbSNP:
complement(866)-c, adbSNP:28940894
complement(872)-t, cdbSNP:74315473
complement(873)-g, adbSNP:199476355
complement(887)-g, adbSNP:199476349
complement(888)-g, adbSNP:199476387
complement(891)-g, adbSNP:199476347
complement(894)-c, adbSNP:74315474
complement(897)-c, adbSNP:200082546
complement(903)-t, cdbSNP:199476389
complement(909)-t, gdbSNP:74315484
complement(916)-g, cdbSNP:199476343
complement(921)-t, cdbSNP:199476359
complement(926)-t, cdbSNP:199476379
complement(929)-g, adbSNP:199476360
complement(933)-t, g, adbSNP:199476356
complement(935)-g, adbSNP:74315459
complement(942)-g, adbSNP:199476382
complement(946)-t, gdbSNP:199476390
complement(950)-g, adbSNP:199476368
complement(976)-g, adbSNP:200567315
complement(983)-t, cdbSNP:148092995
complement(986)-dbSNP:
complement(986)-t, cdbSNP:143994992
complement(1006)-g, adbSNP:147027229
complement(1014)-t, adbSNP:74315475
complement(1059)-g, adbSNP:2071421
complement(1076)-t, gdbSNP:6151422
complement(1110)-t, gdbSNP:200901626
complement(1111)-g, cdbSNP:199476369
complement(1118)-dbSNP:
complement(1118)-t, cdbSNP:74315476
complement(1119)-g, adbSNP:74315477
complement(1136)-t, adbSNP:199476344
complement(1140)-t, c, adbSNP:74315478
complement(1153)-t, g, cdbSNP:6151425
complement(1154)-g, adbSNP:74315479
complement(1159)-g, adbSNP:149088203
complement(1160)-t, cdbSNP:199476370
complement(1178)-t, cdbSNP:74315480
complement(1179)-g, adbSNP:199476391
complement(1182)-g, cdbSNP:743616
complement(1199)-t, cdbSNP:199476376
complement(1226)-dbSNP:
complement(1226)-g, adbSNP:199476361
complement(1233)-t, cdbSNP:28940895
complement(1236)-t, cdbSNP:74315481
complement(1255)-g, adbSNP:140158705
complement(1262)-t, gdbSNP:139073195
complement(1283)-c, adbSNP:74315485
complement(1287)-t, cdbSNP:28940893
complement(1288)-t, cdbSNP:143139801
complement(1293)-t, cdbSNP:199476392
complement(1296)-c, adbSNP:199476380
complement(1298)-t, gdbSNP:74315267
complement(1301)-g, cdbSNP:201693608
complement(1310)-g, adbSNP:74315269
complement(1329)-g, adbSNP:6151427
complement(1349)-t, cdbSNP:117341984
complement(1373)-t, cdbSNP:146391395
complement(1411..1421)-, cgcagctgtgadbSNP:80338823
complement(1416)-g, cdbSNP:199476385
complement(1446)-t, cdbSNP:141555491
complement(1451)-t, cdbSNP:148352371
complement(1466)-t, cdbSNP:74315482
complement(1475)-t, gdbSNP:199476388
complement(1484)-t, cdbSNP:144323513
complement(1491)-g, adbSNP:201085386
complement(1497)-g, adbSNP:6151428
complement(1536)-t, cdbSNP:201846218
complement(1630)-g, adbSNP:6151429
complement(1637)-g, adbSNP:146160737
complement(1699)-t, cdbSNP:144366706
complement(1778)-g, adbSNP:139724334
complement(1785)-t, cdbSNP:150845594
complement(1874)-t, adbSNP:5741862
complement(1876)-t, cdbSNP:182635438
complement(2037)-t, cdbSNP:141494339
complement(2169)-t, cdbSNP:5770953
complement(2216)-g, cdbSNP:7288338
complement(2263)-g, adbSNP:191335867
complement(2264)-t, cdbSNP:148714527
complement(2275)-g, adbSNP:8142033
complement(2311)-g, cdbSNP:115593886
complement(2334)-g, adbSNP:185687558
complement(2372)-g, adbSNP:181688569
complement(2389)-t, cdbSNP:7288050
complement(2453)-t, cdbSNP:5770805
complement(2467)-t, cdbSNP:190569857
complement(2607)-t, cdbSNP:185955658
complement(2610)-t, adbSNP:114833506
complement(2749..2780)-, ttttttttttttttttttttttttttttttttdbSNP:131716
complement(2749)-c, adbSNP:145604351
complement(2750)-t, adbSNP:143372047
complement(2766)-c, adbSNP:111495898
complement(2772)-c, adbSNP:6010033
complement(2780)-, aaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaadbSNP:71718021
complement(2820)-c, adbSNP:35519140
complement(2856)-t, cdbSNP:182142919
complement(2885)-g, cdbSNP:131717
complement(2903)-g, adbSNP:76841085
complement(2906)-t, cdbSNP:190478606
complement(2939)-t, adbSNP:6010032
complement(3000)-c, adbSNP:34969940
complement(3004)-g, adbSNP:8137818
complement(3009)-g, adbSNP:184515588
complement(3010)-t, cdbSNP:8142531
complement(3042)-c, adbSNP:35005618
complement(3044)-c, adbSNP:34367180
complement(3056)-t, gdbSNP:6009939
complement(3104)-g, adbSNP:79823940
complement(3136)-g, cdbSNP:180894081
complement(3153)-g, adbSNP:188667066
complement(3248)-t, cdbSNP:183937648
complement(3280)-t, cdbSNP:73172277
complement(3303)-t, cdbSNP:56788262
complement(3324)-t, adbSNP:7290199
complement(3337)-g, cdbSNP:191548826
complement(3339)-g, adbSNP:201842530
complement(3483)-g, adbSNP:142795679
complement(3567..3568)-, gdbSNP:36019124
complement(3572)-t, cdbSNP:138604864
complement(3587..3588)-, gdbSNP:34290947
complement(3793)-t, cdbSNP:187444411
complement(3850)-g, adbSNP:117951552
complement(3908)-t, gdbSNP:11704557
Gene SymbolARSA
Gene SynonymMLD
Chromosome22
Locus Map22q13.33
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000487 Homo sapiens arylsulfatase A (ARSA), transcript variant 1, mRNA. On-demand $699.00 18
NM_001085425 Homo sapiens arylsulfatase A (ARSA), transcript variant 2, mRNA. On-demand $699.00 18
NM_001085426 Homo sapiens arylsulfatase A (ARSA), transcript variant 3, mRNA. On-demand $699.00 18
NM_001085427 Homo sapiens arylsulfatase A (ARSA), transcript variant 4, mRNA. On-demand $699.00 18
NM_001085428 Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA. On-demand $699.00 18
Title Transport of arylsulfatase A across the blood-brain barrier in vitro .
Author Matthes,F., Wolte,P., Bockenhoff,A., Huwel,S., Schulz,M., Hyden,P., Fogh,J., Gieselmann,V., Galla,H.J. and Matzner,U.
Journal J. Biol. Chem. 286 (20), 17487-17494 (2011)
Title Adult-type metachromatic leukodystrophy with compound heterozygous .
Author Hayashi,T., Nakamura,M., Ichiba,M., Matsuda,M., Kato,M., Shiokawa,N., Shimo,H., Tomiyasu,A., Mori,S., Tomiyasu,Y., Ishizuka,T., Inamori,Y., Okamoto,Y., Umehara,F., Arimura,K., Nakabeppu,Y. and Sano,A.
Journal Psychiatry Clin. Neurosci. 65 (1), 105-108 (2011)
Title Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression .
Author Baronica,K.B., Mlinac,K., Ozretic,D., Vladic,A. and Bognar,S.K.
Journal Coll Antropol 35 (SUPPL 1), 11-16 (2011)
Title Dopamine receptors in human adipocytes: expression and functions .
Author Borcherding,D.C., Hugo,E.R., Idelman,G., De Silva,A., Richtand,N.W., Loftus,J. and Ben-Jonathan,N.
Journal PLoS ONE 6 (9), E25537 (2011)
Title Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? .
Author Lugowska,A., Poninska,J., Krajewski,P., Broda,G. and Ploski,R.
Journal PLoS ONE 6 (6), E20218 (2011)
Title Diagnosis of arylsulfatase A deficiency .
Author Li,Z.G., Waye,J.S. and Chang,P.L.
Journal Am. J. Med. Genet. 43 (6), 976-982 (1992)
Title Proteolytic processing of human lysosomal arylsulfatase A .
Author Fujii,T., Kobayashi,T., Honke,K., Gasa,S., Ishikawa,M., Shimizu,T. and Makita,A.
Journal Biochim. Biophys. Acta 1122 (1), 93-98 (1992)
Title Terminal 22q deletion associated with a partial deficiency of arylsulphatase A .
Author Narahara,K., Takahashi,Y., Murakami,M., Tsuji,K., Yokoyama,Y., Murakami,R., Ninomiya,S. and Seino,Y.
Journal J. Med. Genet. 29 (6), 432-433 (1992)
Title Late-onset metachromatic leukodystrophy: molecular pathology in two siblings .
Author Kappler,J., von Figura,K. and Gieselmann,V.
Journal Ann. Neurol. 31 (3), 256-261 (1992)
Title Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B .
Author DeLuca,C., Brown,J.A. and Shows,T.B.
Journal Proc. Natl. Acad. Sci. U.S.A. 76 (4), 1957-1961 (1979)


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