GM2A

GM2 ganglioside activator
معرفات
أسماء بديلة	cerebroside sulfate activator protein, GM2-AP, GM2A, ganglioside GM2 activator, shingolipid activator protein 3, sphingolipid activator protein 3, SAP-3
معرفات خارجية
تماثلات متسلسلة
	n/a
	n/a
	n/a
	n/a
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	ويكي بيانات
اعرض/عدّل إنسان

GM2A‏ (GM2 ganglioside activator) هوَ بروتين يُشَفر بواسطة جين GM2A في الإنسان.^[1]^[2]

الوظيفة

الأهمية السريرية

المراجع

قراءة متعمقة

Li SC، Nakamura T، Ogamo A، Li YT (1980). "Evidence for the presence of two separate protein activators for the enzymic hydrolysis of GM1 and GM2 gangliosides". J. Biol. Chem. ج. 254 ع. 21: 10592–5. PMID:115863.
Xie B، Kennedy JL، McInnes B، وآخرون (1992). "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". Genomics. ج. 14 ع. 3: 796–8. DOI:10.1016/S0888-7543(05)80190-9. PMID:1427911.
Nagarajan S، Chen HC، Li SC، وآخرون (1992). "Evidence for two cDNA clones encoding human GM2-activator protein". Biochem. J. ج. 282 ع. 3: 807–13. PMC:1130859. PMID:1554364.
Klima H، Tanaka A، Schnabel D، وآخرون (1991). "Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein". FEBS Lett. ج. 289 ع. 2: 260–4. DOI:10.1016/0014-5793(91)81084-L. PMID:1915857.
Schröder M، Schnabel D، Suzuki K، Sandhoff K (1991). "A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB". FEBS Lett. ج. 290 ع. 1–2: 1–3. DOI:10.1016/0014-5793(91)81211-P. PMID:1915858.
Xie B، McInnes B، Neote K، وآخرون (1991). "Isolation and expression of a full-length cDNA encoding the human GM2 activator protein". Biochem. Biophys. Res. Commun. ج. 177 ع. 3: 1217–23. DOI:10.1016/0006-291X(91)90671-S. PMID:2059210.
Fürst W، Schubert J، Machleidt W، وآخرون (1990). "The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein". Eur. J. Biochem. ج. 192 ع. 3: 709–14. DOI:10.1111/j.1432-1033.1990.tb19280.x. PMID:2209618.
Schröder M، Klima H، Nakano T، وآخرون (1989). "Isolation of a cDNA encoding the human GM2 activator protein". FEBS Lett. ج. 251 ع. 1–2: 197–200. DOI:10.1016/0014-5793(89)81454-1. PMID:2753159.
Burg J، Banerjee A، Sandhoff K (1986). "Molecular forms of GM2-activator protein. A study on its biosynthesis in human skin fibroblasts". Biol. Chem. Hoppe-Seyler. ج. 366 ع. 9: 887–91. DOI:10.1515/bchm3.1985.366.2.887. PMID:3935131.
Banerjee A، Burg J، Conzelmann E، وآخرون (1984). "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". Hoppe-Seyler's Z. Physiol. Chem. ج. 365 ع. 3: 347–56. DOI:10.1515/bchm2.1984.365.1.347. PMID:6724528.
Hirabayashi Y، Li YT، Li SC (1983). "The protein activator specific for the enzymic hydrolysis of GM2 ganglioside in normal human brain and brains of three types of GM2 gangliosidosis". J. Neurochem. ج. 40 ع. 1: 168–75. DOI:10.1111/j.1471-4159.1983.tb12667.x. PMID:6848657.
Schröder M، Schnabel D، Hurwitz R، وآخرون (1994). "Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells". Hum. Genet. ج. 92 ع. 5: 437–40. DOI:10.1007/BF00216446. PMID:8244332.
Heng HH، Xie B، Shi XM، وآخرون (1994). "Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus". Genomics. ج. 18 ع. 2: 429–31. DOI:10.1006/geno.1993.1491. PMID:8288250.
Klima H، Klein A، van Echten G، وآخرون (1993). "Over-expression of a functionally active human GM2-activator protein in Escherichia coli". Biochem. J. ج. 292 ع. 2: 571–6. PMC:1134248. PMID:8503891.
Schepers U، Glombitza G، Lemm T، وآخرون (1996). "Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant". Am. J. Hum. Genet. ج. 59 ع. 5: 1048–56. PMC:1914821. PMID:8900233.
Rigat B، Wang W، Leung A، Mahuran DJ (1997). "Two mechanisms for the recapture of extracellular GM2 activator protein: evidence for a major secretory form of the protein". Biochemistry. ج. 36 ع. 27: 8325–31. DOI:10.1021/bi970571c. PMID:9204879.
Yadao F، Hechtman P، Kaplan F (1997). "Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and hexosaminidase A". Biochim. Biophys. Acta. ج. 1340 ع. 1: 45–52. DOI:10.1016/S0167-4838(97)00027-7. PMID:9217013.
Schütte CG، Lemm T، Glombitza GJ، Sandhoff K (1998). "Complete localization of disulfide bonds in GM2 activator protein". Protein Sci. ج. 7 ع. 4: 1039–45. DOI:10.1002/pro.5560070421. PMC:2143992. PMID:9568910.
Chen B، Rigat B، Curry C، Mahuran DJ (1999). "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". Am. J. Hum. Genet. ج. 65 ع. 1: 77–87. DOI:10.1086/302463. PMC:1378077. PMID:10364519.
Jinnai H، Nakamura S (2000). "Characterization of phospholipase D activation by GM2 activator in a cell-free system". Kobe Journal of Medical Sciences. ج. 45 ع. 3–4: 181–90. PMID:10752311.

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GM2A

محتويات

الوظيفة

الأهمية السريرية

المراجع

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