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


RefSeq Accession Definition Services Price Order
NM_000520 Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. ORF Sequence $461.10
Peptide Services
Antibody Services
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RefSeq Version NM_000520.4, 189181665
Length 2437 bp
Structure linear
Update Date 17-APR-2013
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)310..702
Misc Feature(3)706..1740
Misc Feature(4)706..1671
Misc Feature(5)order(739..741,826..828,991..993,1171..1176,1324..1326,
Misc Feature(6)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(149)-t, cdbSNP:147174351
complement(159)-g, adbSNP:143551545
complement(192)-t, cdbSNP:199585195
complement(208)-g, adbSNP:121907965
complement(216)-t, cdbSNP:1800428
complement(217)-g, adbSNP:146938346
complement(239)-g, adbSNP:141120074
complement(245)-g, adbSNP:145666272
complement(276)-g, cdbSNP:143554538
complement(285)-g, adbSNP:121907964
complement(311)-t, gdbSNP:140868947
complement(323)-t, gdbSNP:121907979
complement(334)-t, cdbSNP:150987996
complement(341)-t, gdbSNP:144089645
complement(346)-g, adbSNP:140093519
complement(383)-g, adbSNP:146577256
complement(448)-g, cdbSNP:144231599
complement(534)-dbSNP:
complement(534)-t, cdbSNP:11551324
complement(587)-dbSNP:
complement(587)-t, gdbSNP:121907975
complement(616)-t, cdbSNP:121907962
complement(715)-dbSNP:
complement(715)-t, cdbSNP:121907972
complement(716)-g, adbSNP:121907957
complement(724)-g, adbSNP:200743199
complement(739)-t, cdbSNP:121907953
complement(740)-t, g, adbSNP:28941770
complement(741)-g, adbSNP:75174831
complement(745)-t, cdbSNP:28941771
complement(746)-t, gdbSNP:200513831
complement(747)-g, cdbSNP:121907969
complement(752)-g, adbSNP:148511084
complement(755)-t, adbSNP:185797496
complement(765)-g, adbSNP:144652159
complement(789)-dbSNP:
complement(789)-t, g, cdbSNP:112614306
complement(797)-c, adbSNP:121907973
complement(805)-g, adbSNP:1800429
complement(818)-g, adbSNP:121907976
complement(836)-t, cdbSNP:121907961
complement(839)-t, cdbSNP:121907974
complement(849)-g, cdbSNP:139948663
complement(916)-dbSNP:
complement(916)-g, adbSNP:150675340
complement(946)-t, cdbSNP:121907970
complement(948)-t, cdbSNP:76873846
complement(952)-g, adbSNP:138058578
complement(954)-t, cdbSNP:77405894
complement(956)-g, adbSNP:121907959
complement(966)-t, cdbSNP:117513345
complement(979)-g, cdbSNP:121907971
complement(1012)-g, adbSNP:121907954
complement(1043)-dbSNP:
complement(1043)-g, cdbSNP:148199798
complement(1083)-g, adbSNP:143009489
complement(1085)-t, gdbSNP:1054374
complement(1091)-t, cdbSNP:199578185
complement(1109)-t, gdbSNP:121907977
complement(1117..1119)-, ttcdbSNP:121907960
complement(1179)-t, c, adbSNP:28942072
complement(1194)-dbSNP:
complement(1194)-g, adbSNP:121907967
complement(1221)-g, adbSNP:149121118
complement(1235)-c, adbSNP:191330716
complement(1314)-dbSNP:
complement(1314)-g, adbSNP:140337137
complement(1331)-t, cdbSNP:199954138
complement(1334)-c, adbSNP:78532913
complement(1373)-g, adbSNP:146714642
1383+a, gdbSNP:267606862
complement(1384)-t, cdbSNP:121907963
complement(1402)-g, adbSNP:1800430
complement(1423)-g, adbSNP:140482769
complement(1436)-g, adbSNP:151251788
complement(1460)-g, cdbSNP:201471936
complement(1467)-g, cdbSNP:121907958
complement(1509)-g, cdbSNP:202173526
complement(1513)-g, adbSNP:1800431
complement(1545)-dbSNP:
complement(1545)-g, adbSNP:34085965
complement(1558)-g, cdbSNP:28940871
complement(1566)-g, adbSNP:113941121
complement(1567)-g, adbSNP:121907978
complement(1604)-t, cdbSNP:200936836
complement(1629)-dbSNP:
complement(1629)-g, cdbSNP:121907981
complement(1642)-t, cdbSNP:145012038
complement(1650)-g, adbSNP:140091006
complement(1651)-g, adbSNP:121907952
complement(1660)-t, cdbSNP:121907968
complement(1697)-t, cdbSNP:147502219
complement(1702)-t, cdbSNP:121907966
complement(1703)-g, adbSNP:121907956
complement(1717)-t, cdbSNP:28942071
complement(1718)-g, adbSNP:121907955
complement(1725)-t, g, c, adbSNP:4777502
complement(1876)-g, adbSNP:181233715
complement(1979)-, adbSNP:34300017
complement(1980)-t, cdbSNP:1054432
complement(2115)-c, adbSNP:139968433
complement(2152)-g, cdbSNP:188399769
complement(2164)-g, adbSNP:184059814
complement(2233)-g, adbSNP:112626309
complement(2312)-g, adbSNP: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 Sequence Price Select
NM_000520 Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. Full Length $706.73
ORF Sequence $461.10
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,M.A.
Journal Gene 506 (1), 25-30 (2012)
Title Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India .
Author Mistri,M., Tamhankar,P.M., Sheth,F., Sanghavi,D., Kondurkar,P., Patil,S., Idicula-Thomas,S., Gupta,S. and Sheth,J.
Journal PLoS ONE 7 (6), E39122 (2012)
Title Identification of domains in human beta-hexosaminidase that determine substrate specificity .
Author Pennybacker,M., Liessem,B., Moczall,H., Tifft,C.J., Sandhoff,K. and Proia,R.L.
Journal J. Biol. Chem. 271 (29), 17377-17382 (1996)
Title A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family .
Author Trop,I., Kaplan,F., Brown,C., Mahuran,D. and Hechtman,P.
Journal Hum. Mutat. 1 (1), 35-39 (1992)
Title Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase .
Author O'Dowd,B.F., Cumming,D.A., Gravel,R.A. 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,L.E., Lau,M.M., Quon,D.V., Fowler,A.V. and Neufeld,E.F.
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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