HEXA ELISA Kit for Human(Homo sapiens) | EIAab.comHEXA ELISA Kit for Human(Homo sapiens)

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HEXA (Gene name),

Beta-hexosaminidase subunit alpha (Protein name ), HEXA_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

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Gene name:

HEXA;

Protein name:

Beta-hexosaminidase subunit alpha;

Alternative:

N-acetyl-beta-glucosaminidase subunit alpha;Beta-N-acetylhexosaminidase subunit alpha(Hexosaminidase subunit A);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is an homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit.

Function:

Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity.

Subcellular Location:

Lysosome

Protein Attributes:

Sequence length:

529

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

529:

SHFRCELLRR | GVQAQPLNVG | FCEQEFEQT

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

KEGG:

hsa:3073

String:

P06865

STRING:

9606.ENSP00000268097

SMR:

P06865

UniGene:

Hs.604479

MIM:

272800

Pfam:

PF00728

Uniprot:

P06865

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ELISA Kit for Human Beta-hexosaminidase subunit alpha

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E0195r

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96T

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ELISA Kit for Human Beta-hexosaminidase subunit alpha

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E0195h

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96T

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ELISA Kit for Human Beta-hexosaminidase subunit alpha

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E0195m

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96T

ELISA Kit for Human Beta-hexosaminidase subunit alpha

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E0195b

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96T

CLIA Kit for Human Beta-hexosaminidase subunit alpha

Cat.:

U0195m

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96T

CLIA Kit for Human Beta-hexosaminidase subunit alpha

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U0195r

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96T

CLIA Kit for Human Beta-hexosaminidase subunit alpha

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U0195b

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96T

CLIA Kit for Human Beta-hexosaminidase subunit alpha

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U0195h

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96T

Polyclonal Antibody for Human Beta-hexosaminidase subunit alpha

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P0195Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Beta-hexosaminidase subunit alpha

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P0195Rb-r

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Polyclonal Antibody for Human Beta-hexosaminidase subunit alpha

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P0195Rb-m

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Monoclonal Antibody for Human Beta-hexosaminidase subunit alpha

Protein for Human Beta-hexosaminidase subunit alpha

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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References

1.

"Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain."
Myerowitz R. , Piekarz R. , Neufeld E.F. , Shows T.B. , Suzuki K.
Proc. Natl. Acad. Sci. U.S.A.82:7830-7834(1985) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT VAL-436
2.

"Organization of the gene encoding the human beta-hexosaminidase alpha-chain."
Proia R.L. , Soravia E.
J. Biol. Chem.262:5677-5681(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT VAL-436
3.

"Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease."
Triggs-Raine B.L. , Akerman B.R. , Clarke J.T.R. , Gravel R.A.
Am. J. Hum. Genet.49:1041-1054(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT VAL-436
4.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
tissue: Thalamus.
5.

Suzuki Y. , Sugano S. , Totoki Y. , Toyoda A. , Takeda T. , Sakaki Y. , Tanaka A. , Yokoyama S.
Submitted (2005-04) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1);VARIANT VAL-436
tissue: Adipose tissue.
6.

"The full-ORF clone resource of the German cDNA consortium."
Bechtel S. , Rosenfelder H. , Duda A. , Schmidt C.P. , Ernst U. , Wellenreuther R. , Mehrle A. , Schuster C. , Bahr A. , Bloecker H. , Heubner D. , Hoerlein A. , Michel G. , Wedler H. , Koehrer K. , Ottenwaelder B. , Poustka A. , Wiemann S. , more...
BMC Genomics8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1);VARIANTS PSEUDODEFICIENCY TRP-249 AND VAL-436
7.

"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C. , Garber M. , Sharpe T. , Young S.K. , Rowen L. , O'Neill K. , Whittaker C.A. , Kamal M. , Chang J.L. , Cuomo C.A. , Dewar K. , FitzGerald M.G. , Kodira C.D. , Madan A. , Qin S. , Yang X. , Abbasi N. , Abouelleil A. , more...
Nature440:671-675(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
8.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1);VARIANT VAL-436
tissue: Brain.
tissue: Eye.
9.

"Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease."
Korneluk R.G. , Mahuran D.J. , Neote K. , Klavins M.H. , O'Dowd B.F. , Tropak M. , Willard H.F. , Anderson M.-J. , Lowden J.A. , Gravel R.A.
J. Biol. Chem.261:8407-8413(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 40-529 (ISOFORM 1);VARIANT VAL-436
10.

"Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits."
Mahuran D.J. , Neote K. , Klavins M.H. , Leung A. , Gravel R.A.
J. Biol. Chem.263:4612-4618(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 89-99
11.

"Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase."
O'Dowd B.F. , Cumming D.A. , Gravel R.A. , Mahuran D.J.
Biochemistry27:5216-5226(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 96-105;STRUCTURE OF CARBOHYDRATES
12.

"Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis."
Weitz G. , Proia R.L.
J. Biol. Chem.267:10039-10044(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295;MUTAGENESIS OF ASN-115; ASN-157 AND ASN-295
13.

"Identification of an active acidic residue in the catalytic site of beta-hexosaminidase."
Tse R. , Vavougios G. , Hou Y. , Mahuran D.J.
Biochemistry35:7599-7607(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACTIVE SITES
14.

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-157 AND ASN-295
tissue: Liver.
15.

"Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease."
Tews I. , Perrakis A. , Oppenheim A. , Dauter Z. , Wilson K.S. , Vorgias C.E.
Nat. Struct. Biol.3:638-648(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: 3D-STRUCTURE MODELING
16.

"The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis."
Mahuran D.J.
Biochim. Biophys. Acta1096:87-94(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
17.

"Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene."
Myerowitz R.
Hum. Mutat.9:195-208(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
18.

"Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis."
Lemieux M.J. , Mark B.L. , Cherney M.M. , Withers S.G. , Mahuran D.J. , James M.N.
J. Mol. Biol.359:913-929(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 23-529 IN COMPLEX WITH HEXB;GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295;DISULFIDE BONDS
19.

"A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant."
Nakano T. , Muscillo M. , Ohno K. , Hoffman A.J. , Suzuki K.
J. Neurochem.51:984-987(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 LYS-482
20.

"The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease."
Navon R. , Proia R.L.
Science243:1471-1474(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 SER-269
21.

"A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)."
Tanaka A. , Punnett H.H. , Suzuki K.
Am. J. Hum. Genet.47:568-574(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 CYS-420
22.

"Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments."
Akli S. , Lacorte J.-M. , Poenaru L. , Khan A.
Genomics11:124-134(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM2G1 PHE-210 AND CYS-504
23.

"Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals."
Mules E.H. , Hayflick S. , Miller C.S. , Reynolds L.W. , Thomas G.H.
Am. J. Hum. Genet.50:834-841(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 GLY-320 DEL;VARIANTS ASP-399 AND VAL-436
24.

"A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening."
Triggs-Raine B.L. , Mules E.H. , Kaback M.M. , Lim-Steele J.S.T. , Dowling C.E. , Akerman B.R. , Natowicz M.R. , Grebner E.E. , Navon R. , Welch J.P. , Greenberg C.R. , Thomas G.H. , Gravel R.A.
Am. J. Hum. Genet.51:793-801(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PSEUDODEFICIENCY TRP-247
25.

"A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation."
Fernandes M. , Kaplan F. , Natowicz M. , Prence E. , Kolodny E. , Kaback M. , Hechtman P.
Hum. Mol. Genet.1:759-761(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM2G1 TRP-170 AND HIS-258
26.

"A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family."
Trop I. , Kaplan F. , Brown C. , Mahuran D. , Hechtman P.
Hum. Mutat.1:35-39(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 ASP-250
27.

"Novel Tay-Sachs disease mutations from China."
Akalin N. , Shi H.-P. , Vavougios G. , Hechtman P. , Lo W. , Scriver C.R. , Mahuran D. , Kaplan F.
Hum. Mutat.1:40-46(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 ARG-485
28.

"A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation."
Cao Z. , Natowicz M.R. , Kaback M.M. , Lim-Steele J.S.T. , Prence E.M. , Brown D. , Chabot T. , Triggs-Raine B.L.
Am. J. Hum. Genet.53:1198-1205(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PSEUDODEFICIENCY TRP-249
29.

"Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients."
Akli S. , Chomel J.-C. , Lacorte J.-M. , Bachner L. , Poenaru A. , Poenaru L.
Hum. Mol. Genet.2:61-67(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM2G1
30.

"Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene."
Harmon D.L. , Gardner-Medwin D. , Stirling J.L.
J. Med. Genet.30:123-128(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 SER-25
31.

"Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease."
Tomczak J. , Grebner E.E.
Hum. Mutat.4:71-72(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM2G1 PHE-335 AND 347-ASP--GLU-352 DEL
32.

"Molecular genetics of Tay-Sachs disease in Japan."
Tanaka A. , Sakazaki H. , Murakami H. , Isshiki G. , Suzuki K.
J. Inherit. Metab. Dis.17:593-600(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM2G1 TYR-458 AND GLN-484
33.

"Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England."
Triggs-Raine B.L. , Richard M. , Wasel N. , Prence E.M. , Natowicz M.R.
Am. J. Hum. Genet.56:870-879(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM2G1 SER-196 AND SER-250
34.

"GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A."
Peleg L. , Meltzer F. , Karpati M. , Goldman B.
Biochem. Mol. Med.54:126-132(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 GLY-166
35.

"A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype."
Navon R. , Khosravi R. , Korczyn T. , Masson M. , Sonnino S. , Fardeau M. , Eymard B. , Lefevre N. , Turpin J.C. , Rondot P.
Neurology45:539-543(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 MET-391
36.

"Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene."
de Gasperi R. , Gama Sosa M.A. , Battistini S. , Yeretsian J. , Raghavan S. , Zelnik N. , Leshinsky E. , Kolodny E.H.
Neurology47:547-552(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 HIS-180
37.

"Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease."
Akerman B.R. , Natowicz M.R. , Kaback M.M. , Loyer M. , Campeau E. , Gravel R.A.
Am. J. Hum. Genet.60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314
38.

"Tay-Sachs disease and HEXA mutations among Moroccan Jews."
Kaufman M. , Grinshpun-Cohen J. , Karpati M. , Peleg L. , Goldman B. , Akstein E. , Adam A. , Navon R.
Hum. Mutat.10:295-300(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM2G1 GLN-170; PHE-304 DEL AND LYS-482
39.

"Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients."
Ribeiro M.G. , Pinto R.A. , Suzuki K. , Sa Miranda M.C.
Hum. Mutat.10:359-360(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 ARG-455
40.

"Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease."
Drucker L. , Hemli J.A. , Navon R.
Hum. Mutat.10:451-457(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 PRO-279
41.

"W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis."
Petroulakis E. , Cao Z. , Clarke J.T.R. , Mahuran D.J. , Lee G. , Triggs-Raine B.
Hum. Mutat.11:432-442(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM2G1 CYS-474
42.

"Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form."
Tanaka A. , Hoang L.T. , Nishi Y. , Maniwa S. , Oka M. , Yamano T.
J. Hum. Genet.48:571-574(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499
43.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

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