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Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000520 Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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RefSeq Version NM_000520.4, 189181665
Length 2437 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.
Product beta-hexosaminidase subunit alpha preproprotein
Comment

Summary: This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

RefSeq NP_000511.2
CDS 208..1797
Misc Feature(1)121..123
Misc Feature(2)274..642
Misc Feature(3)706..1740
Misc Feature(4)order(739..741,826..828,991..993,1171..1176,1324..1326,
Misc Feature(5)1474..1479
Exon (1)1..460
Gene:HEXA
Gene Synonym:TSD
Exon (2)461..553
Gene:HEXA
Gene Synonym:TSD
Exon (3)554..619
Gene:HEXA
Gene Synonym:TSD
Exon (4)620..666
Gene:HEXA
Gene Synonym:TSD
Exon (5)667..777
Gene:HEXA
Gene Synonym:TSD
Exon (6)778..879
Gene:HEXA
Gene Synonym:TSD
Exon (7)880..1012
Gene:HEXA
Gene Synonym:TSD
Exon (8)1013..1193
Gene:HEXA
Gene Synonym:TSD
Exon (9)1194..1280
Gene:HEXA
Gene Synonym:TSD
Exon (10)1281..1353
Gene:HEXA
Gene Synonym:TSD
Exon (11)1354..1537
Gene:HEXA
Gene Synonym:TSD
Exon (12)1538..1628
Gene:HEXA
Gene Synonym:TSD
Exon (13)1629..1733
Gene:HEXA
Gene Synonym:TSD
Exon (14)1734..2437
Gene:HEXA
Gene Synonym:TSD
Translation MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSV LDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTI NDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHY LPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVK EVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEF MSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLL DIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPW YLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAV AERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT
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Position Chain Variation Link
complement(41)-dbSNP:
complement(41)-t, cdbSNP:77707876
complement(82)-g, cdbSNP:373306215
complement(149)-t, cdbSNP:147174351
complement(159)-g, adbSNP:143551545
complement(170)-t, gdbSNP:370312523
complement(192)-t, cdbSNP:199585195
208+a, gdbSNP:121907965
complement(215)-g, cdbSNP:374524755
216+c, tdbSNP:1800428
complement(217)-g, adbSNP:146938346
complement(239)-g, adbSNP:141120074
complement(245)-g, adbSNP:145666272
complement(260)-t, cdbSNP:371133961
complement(276)-g, cdbSNP:143554538
285+a, gdbSNP:121907964
complement(309)-g, adbSNP:377310315
complement(311)-t, gdbSNP:140868947
323+g, tdbSNP:121907979
complement(341)-t, gdbSNP:144089645
complement(342)-t, cdbSNP:375574405
380+a, gdbSNP:387906949
complement(383)-g, adbSNP:146577256
complement(448)-g, cdbSNP:144231599
534+dbSNP:
534+c, tdbSNP:11551324
587+dbSNP:
587+g, tdbSNP:121907975
616+c, tdbSNP:121907962
complement(662)-dbSNP:
complement(662)-c, adbSNP:375727994
704+dbSNP:
704+a, gdbSNP:398123442
715+c, tdbSNP:121907972
716+a, gdbSNP:121907957
complement(724)-g, adbSNP:200743199
739+c, tdbSNP:121907953
complement(741)-g, adbSNP:75174831
complement(741)-g, adbSNP:386626646
745+c, tdbSNP:28941771
complement(746)-t, gdbSNP:200513831
747+c, gdbSNP:121907969
complement(752)-g, adbSNP:148511084
complement(755)-t, adbSNP:185797496
complement(765)-g, adbSNP:144652159
781+dbSNP:
781+c, gdbSNP:387906310
complement(789)-t, g, cdbSNP:112614306
797+a, cdbSNP:121907973
805+a, gdbSNP:1800429
818+a, gdbSNP:121907976
836+c, tdbSNP:121907961
839+c, tdbSNP:121907974
complement(849)-g, cdbSNP:139948663
complement(916)-dbSNP:
complement(916)-g, adbSNP:150675340
complement(948)-t, cdbSNP:76873846
complement(952)-g, adbSNP:138058578
complement(954)-t, cdbSNP:77405894
956+a, gdbSNP:121907959
complement(966)-t, cdbSNP:117513345
complement(971)-g, cdbSNP:370576428
979+c, gdbSNP:121907971
complement(1043)-dbSNP:
complement(1043)-g, cdbSNP:148199798
complement(1083)-g, adbSNP:143009489
1085+g, tdbSNP:1054374
complement(1091)-t, cdbSNP:199578185
1109+g, tdbSNP:121907977
1117..1119+, ttcdbSNP:121907960
complement(1164)-g, adbSNP:373799508
1179+a, c, tdbSNP:28942072
1194+dbSNP:
1194+a, gdbSNP:121907967
complement(1221)-g, adbSNP:149121118
complement(1235)-c, adbSNP:191330716
complement(1302)-dbSNP:
complement(1302)-t, adbSNP:368349228
complement(1314)-g, adbSNP:140337137
complement(1331)-t, cdbSNP:199954138
complement(1334)-c, adbSNP:78532913
complement(1373)-g, adbSNP:146714642
1383+a, gdbSNP:267606862
1384+c, tdbSNP:121907963
complement(1385)-t, cdbSNP:370266293
1402+a, gdbSNP:1800430
complement(1423)-g, adbSNP:140482769
complement(1436)-g, adbSNP:151251788
complement(1455)-g, adbSNP:369978649
complement(1460)-g, cdbSNP:201471936
1467+c, gdbSNP:121907958
complement(1473)-c, adbSNP:373023700
1484..1485+, tatcdbSNP:387906309
complement(1509)-g, cdbSNP:202173526
1513+a, gdbSNP:1800431
complement(1545)-dbSNP:
complement(1545)-g, adbSNP:34085965
1558+c, gdbSNP:28940871
complement(1566)-g, adbSNP:113941121
1567+a, gdbSNP:121907978
complement(1589)-t, cdbSNP:375019490
complement(1604)-t, cdbSNP:200936836
complement(1623)-g, cdbSNP:369117208
1629+dbSNP:
1629+c, gdbSNP:121907981
complement(1642)-t, cdbSNP:145012038
complement(1645)-t, cdbSNP:370638338
complement(1646)-g, adbSNP:376929315
complement(1650)-g, adbSNP:140091006
1651+a, gdbSNP:121907952
1660+c, tdbSNP:121907968
complement(1694)-g, cdbSNP:373781108
complement(1697)-t, cdbSNP:147502219
1702+c, tdbSNP:121907966
1703+a, gdbSNP:121907956
1717+c, tdbSNP:28942071
1718+a, gdbSNP:121907955
complement(1725)-t, g, c, adbSNP:4777502
complement(1752)-dbSNP:
complement(1752)-t, cdbSNP:369398952
complement(1876)-g, adbSNP:181233715
complement(1936)-g, adbSNP:375308096
complement(1979)-, adbSNP:34300017
complement(1980)-t, cdbSNP:386514356
1980+c, tdbSNP:1054432
complement(2115)-c, adbSNP:139968433
complement(2152)-g, cdbSNP:188399769
complement(2164)-g, adbSNP:184059814
complement(2233)-g, adbSNP:112626309
2312+a, gdbSNP:3087652
complement(2346)-g, cdbSNP:60288568
complement(2372)-t, cdbSNP:76075374
complement(2386)-c, adbSNP:11629508
complement(2427)-t, cdbSNP:35949555
Gene SymbolHEXA
Gene SynonymTSD
Chromosome15
Locus Map15q24.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000520 Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. On-demand $699.00 18
Title [Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis] .
Author Tsuji D.
Journal Yakugaku Zasshi 133 (2), 269-274 (2013)
Title GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients .
Author Gort L, de Olano N, Macias-Vidal J and Coll MA.
Journal Gene 506 (1), 25-30 (2012)
Title Identification of domains in human beta-hexosaminidase that determine substrate specificity .
Author Pennybacker M, Liessem B, Moczall H, Tifft CJ, Sandhoff K and Proia RL.
Journal J. Biol. Chem. 271 (29), 17377-17382 (1996)
Title Hexosaminidase A Deficiency .
Author Kaback,M.M. and Desnick,R.J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase .
Author O'Dowd BF, Cumming DA, Gravel RA and Mahuran D.
Journal Biochemistry 27 (14), 5216-5226 (1988)
Title Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts .
Author Little LE, Lau MM, Quon DV, Fowler AV and Neufeld EF.
Journal J. Biol. Chem. 263 (9), 4288-4292 (1988)
Title Organization of the gene encoding the human beta-hexosaminidase alpha-chain .
Author Proia,R.L. and Soravia,E.
Journal J. Biol. Chem. 262 (12), 5677-5681 (1987)
Title Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain .
Author Myerowitz,R., Piekarz,R., Neufeld,E.F., Shows,T.B. and Suzuki,K.
Journal Proc. Natl. Acad. Sci. U.S.A. 82 (23), 7830-7834 (1985)
Title Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease) .
Author Beutler,E., Kuhl,W. and Comings,D.
Journal Am. J. Hum. Genet. 27 (5), 628-638 (1975)
Title Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes .
Author Gilbert,F., Kucherlapati,R., Creagan,R.P., Murnane,M.J., Darlington,G.J. and Ruddle,F.H.
Journal Proc. Natl. Acad. Sci. U.S.A. 72 (1), 263-267 (1975)

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