GM2A


GM2A

GM2 ganglioside activator, also known as GM2A, is a human gene.

PBB_Summary
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summary_text = The protein encoded by this gene is a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease.cite web | title = Entrez Gene: GM2A GM2 ganglioside activator| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2760| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Li SC, Nakamura T, Ogamo A, Li YT |title=Evidence for the presence of two separate protein activators for the enzymic hydrolysis of GM1 and GM2 gangliosides. |journal=J. Biol. Chem. |volume=254 |issue= 21 |pages= 10592–5 |year= 1980 |pmid= 115863 |doi=
*cite journal | author=Xie B, Kennedy JL, McInnes B, "et al." |title=Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5. |journal=Genomics |volume=14 |issue= 3 |pages= 796–8 |year= 1992 |pmid= 1427911 |doi=
*cite journal | author=Nagarajan S, Chen HC, Li SC, "et al." |title=Evidence for two cDNA clones encoding human GM2-activator protein. |journal=Biochem. J. |volume=282 ( Pt 3) |issue= |pages= 807–13 |year= 1992 |pmid= 1554364 |doi=
*cite journal | author=Klima H, Tanaka A, Schnabel D, "et al." |title=Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein. |journal=FEBS Lett. |volume=289 |issue= 2 |pages= 260–4 |year= 1991 |pmid= 1915857 |doi=
*cite journal | author=Schröder M, Schnabel D, Suzuki K, Sandhoff K |title=A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. |journal=FEBS Lett. |volume=290 |issue= 1-2 |pages= 1–3 |year= 1991 |pmid= 1915858 |doi=
*cite journal | author=Xie B, McInnes B, Neote K, "et al." |title=Isolation and expression of a full-length cDNA encoding the human GM2 activator protein. |journal=Biochem. Biophys. Res. Commun. |volume=177 |issue= 3 |pages= 1217–23 |year= 1991 |pmid= 2059210 |doi=
*cite journal | author=Fürst W, Schubert J, Machleidt W, "et al." |title=The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein. |journal=Eur. J. Biochem. |volume=192 |issue= 3 |pages= 709–14 |year= 1990 |pmid= 2209618 |doi=
*cite journal | author=Schröder M, Klima H, Nakano T, "et al." |title=Isolation of a cDNA encoding the human GM2 activator protein. |journal=FEBS Lett. |volume=251 |issue= 1-2 |pages= 197–200 |year= 1989 |pmid= 2753159 |doi=
*cite journal | author=Burg J, Banerjee A, Sandhoff K |title=Molecular forms of GM2-activator protein. A study on its biosynthesis in human skin fibroblasts. |journal=Biol. Chem. Hoppe-Seyler |volume=366 |issue= 9 |pages= 887–91 |year= 1986 |pmid= 3935131 |doi=
*cite journal | author=Banerjee A, Burg J, Conzelmann E, "et al." |title=Enzyme-linked immunosorbent assay for the ganglioside GM2-activator protein. Screening of normal human tissues and body fluids, of tissues of GM2 gangliosidosis, and for its subcellular localization. |journal=Hoppe-Seyler's Z. Physiol. Chem. |volume=365 |issue= 3 |pages= 347–56 |year= 1984 |pmid= 6724528 |doi=
*cite journal | author=Hirabayashi Y, Li YT, Li SC |title=The protein activator specific for the enzymic hydrolysis of GM2 ganglioside in normal human brain and brains of three types of GM2 gangliosidosis. |journal=J. Neurochem. |volume=40 |issue= 1 |pages= 168–75 |year= 1983 |pmid= 6848657 |doi=
*cite journal | author=Schröder M, Schnabel D, Hurwitz R, "et al." |title=Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. |journal=Hum. Genet. |volume=92 |issue= 5 |pages= 437–40 |year= 1994 |pmid= 8244332 |doi=
*cite journal | author=Heng HH, Xie B, Shi XM, "et al." |title=Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus. |journal=Genomics |volume=18 |issue= 2 |pages= 429–31 |year= 1994 |pmid= 8288250 |doi= 10.1006/geno.1993.1491
*cite journal | author=Klima H, Klein A, van Echten G, "et al." |title=Over-expression of a functionally active human GM2-activator protein in Escherichia coli. |journal=Biochem. J. |volume=292 ( Pt 2) |issue= |pages= 571–6 |year= 1993 |pmid= 8503891 |doi=
*cite journal | author=Schepers U, Glombitza G, Lemm T, "et al." |title=Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. |journal=Am. J. Hum. Genet. |volume=59 |issue= 5 |pages= 1048–56 |year= 1996 |pmid= 8900233 |doi=
*cite journal | author=Rigat B, Wang W, Leung A, Mahuran DJ |title=Two mechanisms for the recapture of extracellular GM2 activator protein: evidence for a major secretory form of the protein. |journal=Biochemistry |volume=36 |issue= 27 |pages= 8325–31 |year= 1997 |pmid= 9204879 |doi= 10.1021/bi970571c
*cite journal | author=Yadao F, Hechtman P, Kaplan F |title=Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and hexosaminidase A. |journal=Biochim. Biophys. Acta |volume=1340 |issue= 1 |pages= 45–52 |year= 1997 |pmid= 9217013 |doi=
*cite journal | author=Schütte CG, Lemm T, Glombitza GJ, Sandhoff K |title=Complete localization of disulfide bonds in GM2 activator protein. |journal=Protein Sci. |volume=7 |issue= 4 |pages= 1039–45 |year= 1998 |pmid= 9568910 |doi=
*cite journal | author=Chen B, Rigat B, Curry C, Mahuran DJ |title=Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. |journal=Am. J. Hum. Genet. |volume=65 |issue= 1 |pages= 77–87 |year= 1999 |pmid= 10364519 |doi=
*cite journal | author=Jinnai H, Nakamura S |title=Characterization of phospholipase D activation by GM2 activator in a cell-free system. |journal=The Kobe journal of medical sciences |volume=45 |issue= 3-4 |pages= 181–90 |year= 2000 |pmid= 10752311 |doi=

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