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Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000199 Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_000199.3, 182765452
Length 2770 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.
Product N-sulphoglucosamine sulphohydrolase precursor
Comment

Summary: This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008].

RefSeq NP_000190.1
CDS 88..1596
Misc Feature(1)178..1419
Misc Feature(2)178..1098
Misc Feature(3)877..879
Misc Feature(4)<1330..1497
Exon (1)1..175
Gene:SGSH
Gene Synonym:HSS; MPS3A; SFMD
Exon (2)176..336
Gene:SGSH
Gene Synonym:HSS; MPS3A; SFMD
Exon (3)337..442
Gene:SGSH
Gene Synonym:HSS; MPS3A; SFMD
Exon (4)443..593
Gene:SGSH
Gene Synonym:HSS; MPS3A; SFMD
Exon (5)594..750
Gene:SGSH
Gene Synonym:HSS; MPS3A; SFMD
Exon (6)751..832
Gene:SGSH
Gene Synonym:HSS; MPS3A; SFMD
Exon (7)833..1036
Gene:SGSH
Gene Synonym:HSS; MPS3A; SFMD
Exon (8)1037..2768
Gene:SGSH
Gene Synonym:HSS; MPS3A; SFMD
Translation MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSAIATPHLDALARRSLLF RNAFTSVSSCSPSRASLLTGLPQHQNGMYGLHQDVHHFNSFDKVRSLPLLLSQAGVRTGI IGKKHVGPETVYPFDFAYTEENGSVLQVGRNITRIKLLVRKFLQTQDDRPFFLYVAFHDP HRCGHSQPQYGTFCEKFGNGESGMGRIPDWTPQAYDPLDVLVPYFVPNTPAARADLAAQY TTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGIPFPSGRTNLYWPGTAEPLLVSSPE HPKRWGQVSEAYVSLLDLTPTILDWFSIPYPSYAIFGSKTIHLTGRSLLPALEAEPLWAT VFGSQSHHEVTMSYPMRSVQHRHFRLVHNLNFKMPFPIDQDFYVSPTFQDLLNRTTAGQP TGWYKDLRHYYYRARWELYDRSRDPHETQNLATDPRFAQLLEMLRDQLAKWQWETHDPWV CAPDGVLEEKLSPQCQPLHNEL
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Position Chain Variation Link
complement(26)-dbSNP:
complement(26)-g, cdbSNP:71389741
complement(183)-dbSNP:
complement(183)-g, adbSNP:139850991
complement(204)-t, cdbSNP:201132655
complement(231)-t, cdbSNP:145970971
complement(268)-g, adbSNP:142309764
complement(284)-g, cdbSNP:104894637
complement(307)-t, cdbSNP:104894636
complement(310)-t, cdbSNP:137953179
complement(363)-dbSNP:
complement(363)-g, cdbSNP:201478799
complement(390)-g, adbSNP:150482611
complement(411)-t, cdbSNP:147938702
complement(434)-g, adbSNP:148347556
complement(470)-dbSNP:
complement(470)-t, cdbSNP:104894642
complement(477)-g, adbSNP:111761143
complement(484)-t, gdbSNP:199643693
complement(498)-t, cdbSNP:142557761
complement(504)-t, cdbSNP:142729872
complement(519)-g, adbSNP:200194908
complement(536)-g, adbSNP:104894638
complement(548..549)-, adbSNP:36003850
complement(561)-g, adbSNP:75828254
complement(565)-g, adbSNP:189571889
complement(567..568)-, adbSNP:34014912
complement(609)-dbSNP:
complement(609)-g, adbSNP:147064455
complement(613)-t, cdbSNP:141533664
complement(621)-g, adbSNP:139484283
complement(657)-g, adbSNP:149951602
complement(704)-g, cdbSNP:104894643
complement(720)-t, gdbSNP:187147954
complement(724)-t, gdbSNP:200644359
complement(728)-t, gdbSNP:74000629
complement(732)-g, adbSNP:151227799
complement(745)-t, c, adbSNP:150508741
complement(762)-dbSNP:
complement(762)-g, adbSNP:34520362
complement(763)-t, cdbSNP:145967352
complement(788)-g, cdbSNP:113641837
complement(816)-t, gdbSNP:17854435
complement(821)-g, adbSNP:104894635
complement(839)-dbSNP:
complement(839)-g, cdbSNP:144461610
complement(868)-t, cdbSNP:149248428
complement(879)-g, adbSNP:147962306
complement(885)-t, cdbSNP:199562202
complement(903)-g, adbSNP:200485062
complement(909)-g, adbSNP:138927823
complement(927)-g, adbSNP:146904798
complement(964)-g, adbSNP:143947056
complement(979)-g, adbSNP:138504221
complement(984)-t, cdbSNP:147061152
complement(1023)-g, adbSNP:147716878
complement(1036)-g, cdbSNP:140513686
complement(1051)-dbSNP:
complement(1051)-t, cdbSNP:151243903
complement(1062)-c, adbSNP:201413321
complement(1068)-t, cdbSNP:143223388
complement(1086)-g, adbSNP:149139346
complement(1089)-g, adbSNP:145596938
complement(1100)-g, adbSNP:143526757
complement(1123)-g, adbSNP:139918604
complement(1129)-g, adbSNP:146494740
complement(1136)-g, adbSNP:144035603
complement(1139)-g, adbSNP:139075692
complement(1149)-g, adbSNP:150750383
complement(1156)-g, adbSNP:71389740
complement(1163)-g, adbSNP:202150579
complement(1168)-t, cdbSNP:9894254
complement(1191)-g, adbSNP:111800668
complement(1192)-g, adbSNP:104894640
complement(1195)-t, cdbSNP:201061563
complement(1203)-t, cdbSNP:58786455
complement(1226)-t, cdbSNP:144143780
complement(1246)-t, cdbSNP:62620232
complement(1269)-c, adbSNP:34297805
complement(1296)-g, adbSNP:115750405
complement(1297)-t, cdbSNP:191465934
complement(1312)-g, adbSNP:138758437
complement(1328)-t, cdbSNP:200320139
complement(1346)-g, adbSNP:150222010
complement(1350)-t, cdbSNP:140931352
complement(1369)-g, adbSNP:138267034
complement(1370)-t, cdbSNP:144862290
complement(1383)-g, adbSNP:141153056
complement(1385)-g, adbSNP:104894641
complement(1388)-g, adbSNP:76375023
complement(1404)-g, adbSNP:146522699
complement(1409)-t, cdbSNP:142599919
complement(1410)-g, cdbSNP:202209795
complement(1424)-t, cdbSNP:148876719
complement(1426)-g, adbSNP:104894639
complement(1448)-t, adbSNP:145490072
complement(1454)-t, cdbSNP:7503034
complement(1515)-g, adbSNP:139460639
complement(1533)-g, adbSNP:113679696
complement(1537)-t, cdbSNP:190505648
complement(1549)-t, cdbSNP:145645179
complement(1689)-t, cdbSNP:111628992
complement(1797)-t, adbSNP:139066649
complement(1828)-g, adbSNP:113462619
complement(1841)-t, cdbSNP:186034906
complement(1873)-g, adbSNP:115999892
complement(1911)-t, cdbSNP:2071148
complement(1912)-t, cdbSNP:112147015
complement(2011)-t, cdbSNP:141810727
complement(2067)-t, cdbSNP:138717045
complement(2346)-g, adbSNP:182008915
complement(2359)-t, cdbSNP:111957961
complement(2394)-g, adbSNP:111693111
complement(2429)-g, adbSNP:2012452
complement(2436)-t, cdbSNP:709678
complement(2444)-g, cdbSNP:709677
complement(2451)-t, cdbSNP:1046832
complement(2460)-g, adbSNP:190998203
complement(2477)-g, cdbSNP:186120448
complement(2486)-t, cdbSNP:111726823
complement(2508)-g, adbSNP:200388157
complement(2524)-t, cdbSNP:147726784
complement(2540)-c, adbSNP:202042823
complement(2549)-t, cdbSNP:150031854
Gene SymbolSGSH
Gene SynonymHSS; MPS3A; SFMD
Chromosome17
Locus Map17q25.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000199 Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA. On-demand $699.00 18
Title Enzyme replacement reduces neuropathology in MPS IIIA dogs .
Author Crawley,A.C., Marshall,N., Beard,H., Hassiotis,S., Walsh,V., King,B., Hucker,N., Fuller,M., Jolly,R.D., Hopwood,J.J. and Hemsley,K.M.
Journal Neurobiol. Dis. 43 (2), 422-434 (2011)
Title Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome .
Author Muschol,N., Pohl,S., Meyer,A., Gal,A., Ullrich,K. and Braulke,T.
Journal Am. J. Med. Genet. A 155A (7), 1634-1639 (2011)
Title New genetic associations detected in a host response study to hepatitis B vaccine .
Author Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J., Snippe,H., Hibberd,M.L. and Seielstad,M.
Journal Genes Immun. 11 (3), 232-238 (2010)
Title The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) .
Author Meyer,A., Kossow,K., Gal,A., Steglich,C., Muhlhausen,C., Ullrich,K., Braulke,T. and Muschol,N.
Journal Hum. Mutat. 29 (5), 770 (2008)
Title Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene .
Author Bekri,S., Armana,G., De Ricaud,D., Osenda,M., Maire,I., Van Obberghen,E. and Froissart,R.
Journal J. Inherit. Metab. Dis. 28 (4), 601-602 (2005)
Title Novel mutations in Sanfilippo A syndrome: implications for enzyme function .
Author Weber,B., Guo,X.H., Wraith,J.E., Cooper,A., Kleijer,W.J., Bunge,S. and Hopwood,J.J.
Journal Hum. Mol. Genet. 6 (9), 1573-1579 (1997)
Title Molecular defects in Sanfilippo syndrome type A .
Author Blanch,L., Weber,B., Guo,X.H., Scott,H.S. and Hopwood,J.J.
Journal Hum. Mol. Genet. 6 (5), 787-791 (1997)
Title Structure and sequence of the human sulphamidase gene .
Author Karageorgos,L.E., Guo,X.H., Blanch,L., Weber,B., Anson,D.S., Scott,H.S. and Hopwood,J.J.
Journal DNA Res. 3 (4), 269-271 (1996)
Title Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome .
Author Scott,H.S., Blanch,L., Guo,X.H., Freeman,C., Orsborn,A., Baker,E., Sutherland,G.R., Morris,C.P. and Hopwood,J.J.
Journal Nat. Genet. 11 (4), 465-467 (1995)
Title Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) .
Author van de Kamp,J.J., Niermeijer,M.F., von Figura,K. and Giesberts,M.A.
Journal Clin. Genet. 20 (2), 152-160 (1981)


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