GM2A

From Wikipedia, the free encyclopedia

GM2 ganglioside activator

PDB rendering based on 1g13.

Available structures: 1g13, 1pu5, 1pub, 1tjj, 2af9, 2ag2, 2ag4, 2ag9

Identifiers

Symbol(s)

GM2A; SAP-3

External IDs

OMIM: 272750 MGI: 95762 HomoloGene: 349

Gene ontology
Molecular Function:	• beta-N-acetylhexosaminidase activity • sphingolipid activator protein activity
Cellular Component:	• mitochondrion • lysosome
Biological Process:	• glycosphingolipid metabolic process • ganglioside catabolic process • learning and/or memory • oligosaccharide catabolic process • glycolipid catabolic process • sequestering of lipid • sphingolipid catabolic process • neurological process • regulation of balance

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000405 (mRNA)
NP_000396 (protein)

NM_010299 (mRNA)
NP_034429 (protein)

Location

Chr 5: 150.61 - 150.63 Mb

Chr 11: 54.94 - 54.95 Mb

Pubmed search

[1]

[2]

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

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.^[1]

[edit] References

^ Entrez Gene: GM2A GM2 ganglioside activator.

[edit] Further reading

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. 254 (21): 10592–5. PMID 115863.
Xie B, Kennedy JL, McInnes B, et al. (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 14 (3): 796–8. PMID 1427911.
Nagarajan S, Chen HC, Li SC, et al. (1992). "Evidence for two cDNA clones encoding human GM2-activator protein.". Biochem. J. 282 ( Pt 3): 807–13. PMID 1554364.
Klima H, Tanaka A, Schnabel D, et al. (1991). "Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.". FEBS Lett. 289 (2): 260–4. 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. 290 (1-2): 1–3. PMID 1915858.
Xie B, McInnes B, Neote K, et al. (1991). "Isolation and expression of a full-length cDNA encoding the human GM2 activator protein.". Biochem. Biophys. Res. Commun. 177 (3): 1217–23. PMID 2059210.
Fürst W, Schubert J, Machleidt W, et al. (1990). "The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein.". Eur. J. Biochem. 192 (3): 709–14. PMID 2209618.
Schröder M, Klima H, Nakano T, et al. (1989). "Isolation of a cDNA encoding the human GM2 activator protein.". FEBS Lett. 251 (1-2): 197–200. 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 366 (9): 887–91. PMID 3935131.
Banerjee A, Burg J, Conzelmann E, et al. (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. 365 (3): 347–56. 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. 40 (1): 168–75. PMID 6848657.
Schröder M, Schnabel D, Hurwitz R, et al. (1994). "Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells.". Hum. Genet. 92 (5): 437–40. PMID 8244332.
Heng HH, Xie B, Shi XM, et al. (1994). "Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.". Genomics 18 (2): 429–31. doi:10.1006/geno.1993.1491. PMID 8288250.
Klima H, Klein A, van Echten G, et al. (1993). "Over-expression of a functionally active human GM2-activator protein in Escherichia coli.". Biochem. J. 292 ( Pt 2): 571–6. PMID 8503891.
Schepers U, Glombitza G, Lemm T, et al. (1996). "Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.". Am. J. Hum. Genet. 59 (5): 1048–56. 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 36 (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 1340 (1): 45–52. PMID 9217013.
Schütte CG, Lemm T, Glombitza GJ, Sandhoff K (1998). "Complete localization of disulfide bonds in GM2 activator protein.". Protein Sci. 7 (4): 1039–45. 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. 65 (1): 77–87. PMID 10364519.
Jinnai H, Nakamura S (2000). "Characterization of phospholipase D activation by GM2 activator in a cell-free system.". The Kobe journal of medical sciences 45 (3-4): 181–90. PMID 10752311.