HEXA

HEXA

Hexosaminidase A (alpha polypeptide), also known as HEXA, is a human gene.

PBB_Summary
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summary_text = Hexosaminidase A is 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). [cite web | title = Entrez Gene: HEXA hexosaminidase A (alpha polypeptide)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3073| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Mahuran DJ |title=The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. |journal=Biochim. Biophys. Acta |volume=1096 |issue= 2 |pages= 87–94 |year= 1991 |pmid= 1825792 |doi=
*cite journal | author=Myerowitz R |title=Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. |journal=Hum. Mutat. |volume=9 |issue= 3 |pages= 195–208 |year= 1997 |pmid= 9090523 |doi= 10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7 |doilabel=10.1002/(SICI)1098-1004(1997)9:3195::AID-HUMU13.0.CO;2-7
*cite journal | author=Mahuran DJ |title=Biochemical consequences of mutations causing the GM2 gangliosidoses. |journal=Biochim. Biophys. Acta |volume=1455 |issue= 2-3 |pages= 105–38 |year= 1999 |pmid= 10571007 |doi=
*cite journal | author=Gilbert F, Kucherlapati R, Creagan RP, "et al." |title=Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=72 |issue= 1 |pages= 263–7 |year= 1975 |pmid= 1054503 |doi=
*cite journal | author=Trop I, Kaplan F, Brown C, "et al." |title=A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. |journal=Hum. Mutat. |volume=1 |issue= 1 |pages= 35–9 |year= 1993 |pmid= 1301189 |doi= 10.1002/humu.1380010106
*cite journal | author=Akalin N, Shi HP, Vavougios G, "et al." |title=Novel Tay-Sachs disease mutations from China. |journal=Hum. Mutat. |volume=1 |issue= 1 |pages= 40–6 |year= 1993 |pmid= 1301190 |doi= 10.1002/humu.1380010107
*cite journal | author=Akerman BR, Zielenski J, Triggs-Raine BL, "et al." |title=A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. |journal=Hum. Mutat. |volume=1 |issue= 4 |pages= 303–9 |year= 1993 |pmid= 1301938 |doi= 10.1002/humu.1380010407
*cite journal | author=Fernandes M, Kaplan F, Natowicz M, "et al." |title=A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. |journal=Hum. Mol. Genet. |volume=1 |issue= 9 |pages= 759–61 |year= 1993 |pmid= 1302612 |doi=
*cite journal | author=McDowell GA, Mules EH, Fabacher P, "et al." |title=The presence of two different infantile Tay-Sachs disease mutations in a Cajun population. |journal=Am. J. Hum. Genet. |volume=51 |issue= 5 |pages= 1071–7 |year= 1992 |pmid= 1307230 |doi=
*cite journal | author=Whitley CB, Anderson RA, McIvor RS |title=Heterozygosity for the "DN allele" (G533-greater than A) of the beta-hexosaminidase alpha subunit gene identified by direct DNA sequencing in a family with the B1 variant of GM2-gangliosidosis. |journal=Neuropediatrics |volume=23 |issue= 2 |pages= 96–101 |year= 1992 |pmid= 1318511 |doi=
*cite journal | author=Triggs-Raine BL, Mules EH, Kaback MM, "et al." |title=A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. |journal=Am. J. Hum. Genet. |volume=51 |issue= 4 |pages= 793–801 |year= 1992 |pmid= 1384323 |doi=
*cite journal | author=Hechtman P, Boulay B, De Braekeleer M, "et al." |title=The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada. |journal=Hum. Genet. |volume=90 |issue= 4 |pages= 402–6 |year= 1993 |pmid= 1483696 |doi=
*cite journal | author=Mules EH, Hayflick S, Miller CS, "et al." |title=Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. |journal=Am. J. Hum. Genet. |volume=50 |issue= 4 |pages= 834–41 |year= 1992 |pmid= 1532289 |doi=
*cite journal | author=Weitz G, Proia RL |title=Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis. |journal=J. Biol. Chem. |volume=267 |issue= 14 |pages= 10039–44 |year= 1992 |pmid= 1533633 |doi=
*cite journal | author=Navon R, Proia RL |title=Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase. |journal=Am. J. Hum. Genet. |volume=48 |issue= 2 |pages= 412–9 |year= 1991 |pmid= 1825014 |doi=
*cite journal | author=Mules EH, Dowling CE, Petersen MB, "et al." |title=A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients. |journal=Am. J. Hum. Genet. |volume=48 |issue= 6 |pages= 1181–5 |year= 1991 |pmid= 1827945 |doi=
*cite journal | author=Nakai H, Byers MG, Nowak NJ, Shows TB |title=Assignment of beta-hexosaminidase A alpha-subunit to human chromosomal region 15q23----q24. |journal=Cytogenet. Cell Genet. |volume=56 |issue= 3-4 |pages= 164 |year= 1991 |pmid= 1829032 |doi=
*cite journal | author=Nishimoto J, Tanaka A, Nanba E, Suzuki K |title=Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease. |journal=J. Biol. Chem. |volume=266 |issue= 22 |pages= 14306–9 |year= 1991 |pmid= 1830584 |doi=
*cite journal | author=dos Santos MR, Tanaka A, sá Miranda MC, "et al." |title=GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal. |journal=Am. J. Hum. Genet. |volume=49 |issue= 4 |pages= 886–90 |year= 1991 |pmid= 1832817 |doi=

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