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Homo sapiens glucuronidase, beta (GUSB), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000181 Homo sapiens glucuronidase, beta (GUSB), mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15

*Business Day

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RefSeq Version NM_000181.3, 268834191
Length 2321 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens glucuronidase, beta (GUSB), mRNA.
Product beta-glucuronidase precursor
Comment

Summary: This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, Nov 2009].

RefSeq NP_000172.2
CDS 132..2087
Misc Feature(1)6
Misc Feature(2)6
Misc Feature(3)89..105
Misc Feature(4)93..95
Misc Feature(5)102
Misc Feature(6)210..2024
Misc Feature(7)234..791
Misc Feature(8)1116..2024
Exon (1)1..341
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (2)342..527
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (3)528..712
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (4)713..855
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (5)856..1043
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (6)1044..1196
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (7)1197..1375
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (8)1376..1522
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (9)1523..1607
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (10)1608..1784
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (11)1785..1920
Gene:GUSB
Gene Synonym:BG; MPS7
Exon (12)1921..2300
Gene:GUSB
Gene Synonym:BG; MPS7
Translation MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFE EQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVV LRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTT LPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQD SGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYL YSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKG FDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNN VSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVT FVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSE YGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTR VLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT
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Position Chain Variation Link
complement(60)-c, adbSNP:2279904
complement(82)-g, adbSNP:201504866
complement(90)-c, adbSNP:199591754
complement(120)-t, cdbSNP:2279903
complement(144)-g, adbSNP:190496263
complement(293)-g, adbSNP:74975849
complement(297)-g, adbSNP:147262894
complement(347)-dbSNP:
complement(347)-g, adbSNP:77774169
complement(353)-g, adbSNP:140016611
complement(392)-g, adbSNP:112435030
complement(403)-t, cdbSNP:147454954
complement(462)-c, adbSNP:200935970
complement(542)-dbSNP:
complement(542)-g, adbSNP:141441283
complement(573)-t, cdbSNP:121918177
complement(578)-g, adbSNP:148364905
complement(584)-g, cdbSNP:144397476
complement(585)-t, cdbSNP:149606212
complement(657)-t, cdbSNP:121918181
complement(663)-c, adbSNP:11559281
complement(671)-g, adbSNP:138435796
complement(692)-t, cdbSNP:74430256
complement(759)-dbSNP:
complement(759)-t, adbSNP:200457516
complement(764)-g, adbSNP:140278510
complement(777)-t, cdbSNP:121918174
complement(800)-t, adbSNP:201178083
complement(826)-g, cdbSNP:138618819
complement(828)-t, cdbSNP:202210104
complement(853)-t, cdbSNP:200298579
complement(872)-dbSNP:
complement(872)-c, adbSNP:9764011
complement(881)-t, gdbSNP:79158322
complement(891)-t, gdbSNP:150086524
complement(895)-t, adbSNP:140709901
complement(897)-g, adbSNP:200941434
complement(914)-t, cdbSNP:111318129
complement(923)-t, adbSNP:10081434
complement(924)-t, gdbSNP:10081500
complement(927)-g, adbSNP:10046699
complement(929)-t, gdbSNP:78647420
complement(944)-t, cdbSNP:150999162
complement(992)-g, cdbSNP:10054584
complement(1001)-t, cdbSNP:9686778
complement(1008)-t, cdbSNP:77772288
complement(1025)-g, adbSNP:79148052
complement(1027)-c, adbSNP:4443390
complement(1027)-c, adbSNP:78621116
complement(1064)-dbSNP:
complement(1064)-t, cdbSNP:188921177
complement(1094)-t, cdbSNP:142706520
complement(1154)-t, adbSNP:74346142
complement(1172)-g, adbSNP:141303888
complement(1175)-g, adbSNP:147820162
complement(1181)-g, c, adbSNP:121918182
complement(1182)-g, adbSNP:191153460
complement(1187)-t, cdbSNP:200412277
complement(1192)-t, cdbSNP:121918175
complement(1200)-dbSNP:
complement(1200)-t, cdbSNP:121918185
complement(1214)-g, adbSNP:139976112
complement(1257)-t, cdbSNP:11559283
complement(1273)-g, adbSNP:74410123
complement(1275)-t, cdbSNP:121918173
complement(1278)-t, gdbSNP:200451572
complement(1316)-c, adbSNP:149761698
complement(1344)-t, cdbSNP:200149500
complement(1369)-g, adbSNP:139701264
complement(1371)-g, adbSNP:150686327
complement(1384)-dbSNP:
complement(1384)-t, gdbSNP:193920810
complement(1422)-t, cdbSNP:143040697
complement(1453..1454)-, cdbSNP:35957142
complement(1460)-g, adbSNP:139776224
complement(1469)-g, adbSNP:121918180
complement(1490)-t, cdbSNP:118066970
complement(1519)-g, adbSNP:142191627
complement(1547)-dbSNP:
complement(1547)-g, adbSNP:138554083
complement(1576)-t, gdbSNP:1065562
complement(1576)-t, gdbSNP:66712151
complement(1576)-c, adbSNP:4412070
complement(1576)-c, adbSNP:78059874
complement(1592)-g, adbSNP:200831987
complement(1601)-g, adbSNP:143084006
complement(1606)-g, cdbSNP:77532932
complement(1611)-dbSNP:
complement(1611)-g, cdbSNP:143495981
complement(1615)-g, adbSNP:121918178
complement(1630)-g, adbSNP:71238243
complement(1652)-g, adbSNP:121918179
complement(1657..1664)-atagttgt, gtagttgcdbSNP:71270788
complement(1657)-t, cdbSNP:62371795
complement(1657)-t, cdbSNP:74732695
complement(1657)-g, adbSNP:3194930
complement(1657)-g, adbSNP:78086216
complement(1658)-g, adbSNP:201928248
complement(1663)-t, cdbSNP:199694121
complement(1664)-t, cdbSNP:3194931
complement(1664)-t, cdbSNP:17141587
complement(1664)-t, cdbSNP:80285642
complement(1664)-g, adbSNP:62371794
complement(1664)-g, adbSNP:75410619
complement(1669)-t, cdbSNP:74653786
complement(1684)-t, cdbSNP:4302537
complement(1684)-t, cdbSNP:78942429
complement(1695)-g, cdbSNP:2630954
complement(1695)-g, cdbSNP:62400807
complement(1695)-g, cdbSNP:76895262
complement(1712)-t, cdbSNP:4866427
complement(1712)-t, cdbSNP:76205502
complement(1712)-g, adbSNP:76964494
complement(1732)-t, cdbSNP:71233137
complement(1732)-t, cdbSNP:77010653
complement(1750)-t, gdbSNP:74940616
complement(1750)-t, gdbSNP:75301979
complement(1750)-t, gdbSNP:78370216
complement(1750)-c, adbSNP:1054398
complement(1770)-t, cdbSNP:2630953
complement(1773)-t, cdbSNP:71233136
complement(1773)-g, adbSNP:10081586
complement(1776)-t, cdbSNP:2981920
complement(1778)-g, adbSNP:76097976
complement(1811)-dbSNP:
complement(1811)-g, cdbSNP:3207399
complement(1812)-t, gdbSNP:3207400
complement(1816)-g, adbSNP:3207401
complement(1816)-g, adbSNP:71253485
complement(1825)-c, adbSNP:149448152
complement(1837)-g, adbSNP:2434229
complement(1860)-t, cdbSNP:79539419
complement(1861)-t, gdbSNP:3207402
complement(1861)-t, gdbSNP:121918183
complement(1871)-t, cdbSNP:1061361
complement(1872)-t, cdbSNP:150304382
complement(1883)-t, cdbSNP:141430018
complement(1886)-g, adbSNP:62372705
complement(1901)-t, gdbSNP:200228580
complement(1908)-t, cdbSNP:113059520
complement(1962)-dbSNP:
complement(1962)-t, cdbSNP:121918176
complement(1980)-, adbSNP:35302712
complement(1987)-t, cdbSNP:121918172
complement(2012)-t, gdbSNP:121918184
complement(2037)-g, adbSNP:145910162
complement(2077)-t, cdbSNP:9530
complement(2091)-t, adbSNP:201204553
complement(2107)-g, adbSNP:150311243
complement(2121)-g, cdbSNP:62470933
complement(2248)-t, cdbSNP:140236850
complement(2259)-t, cdbSNP:77293332
complement(2281)-t, cdbSNP:138519677
complement(2295)-c, adbSNP:190201470
Gene SymbolGUSB
Gene SynonymBG; MPS7
Chromosome7
Locus Map7q21.11
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000181 Homo sapiens glucuronidase, beta (GUSB), mRNA. In-stock $639.00 $590.00 15
Title GUSB and ATP2B4 are suitable reference genes for CFTR gene expression data normalization in nasal epithelium cells .
Author Masvidal,L., Alvarez,A., Ruano,L., de Gracia,J., Larriba,S. and Casals,T.
Journal J. Cyst. Fibros. 11 (5), 398-404 (2012)
Title Expression of common housekeeping genes is affected by disease in human hepatitis C virus-infected liver .
Author Congiu,M., Slavin,J.L. and Desmond,P.V.
Journal Liver Int. 31 (3), 386-390 (2011)
Title Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis .
Author Tomatsu,S., Montano,A.M., Dung,V.C., Grubb,J.H. and Sly,W.S.
Journal Hum. Mutat. 30 (4), 511-519 (2009)
Title GUS and PMM1 as suitable reference genes for gene expression analysis in the liver tissue of patients with chronic hepatitis .
Author Romanowski,T., Sikorska,K. and Bielawski,K.P.
Journal Med. Sci. Monit. 14 (7), BR147-BR152 (2008)
Title Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry .
Author Liu,T., Qian,W.J., Gritsenko,M.A., Camp,D.G. II, Monroe,M.E., Moore,R.J. and Smith,R.D.
Journal J. Proteome Res. 4 (6), 2070-2080 (2005)
Title Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer .
Author Wolfe,J.H., Sands,M.S., Barker,J.E., Gwynn,B., Rowe,L.B., Vogler,C.A. and Birkenmeier,E.H.
Journal Nature 360 (6406), 749-753 (1992)
Title Characterization of the subunits and sugar moiety of human placental and leukemic beta-glucuronidase .
Author Tanaka,J., Gasa,S., Sakurada,K., Miyazaki,T., Kasai,M. and Makita,A.
Journal Biol. Chem. Hoppe-Seyler 373 (1), 57-62 (1992)
Title Analysis of the 5' flanking region of the human beta-glucuronidase gene .
Author Shipley,J.M., Miller,R.D., Wu,B.M., Grubb,J.H., Christensen,S.G., Kyle,J.W. and Sly,W.S.
Journal Genomics 10 (4), 1009-1018 (1991)
Title Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity .
Author Tomatsu,S., Fukuda,S., Sukegawa,K., Ikedo,Y., Yamada,S., Yamada,Y., Sasaki,T., Okamoto,H., Kuwahara,T., Yamaguchi,S. et al.
Journal Am. J. Hum. Genet. 48 (1), 89-96 (1991)
Title Human beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassay .
Author Bell,C.E. Jr., Sly,W.S. and Brot,F.E.
Journal J. Clin. Invest. 59 (1), 97-105 (1977)


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