NAGA (gene) explained

Alpha-N-acetylgalactosaminidase is an enzyme that in humans is encoded by the NAGA gene.^[1]

NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease).^[1]

Further reading

• Cantz M, Ulrich-Bott B . Disorders of glycoprotein degradation. . J. Inherit. Metab. Dis. . 13 . 4 . 523–37 . 1990 . 2122119 . 10.1007/BF01799510 . 21567863 .
• Wang AM, Desnick RJ . Robert J. Desnick . Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene. . Genomics . 10 . 1 . 133–42 . 1991 . 1646157 . 10.1016/0888-7543(91)90493-X .
• Wang AM, Bishop DF, Desnick RJ . Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene. . J. Biol. Chem. . 265 . 35 . 21859–66 . 1991 . 10.1016/S0021-9258(18)45818-8 . 2174888 . free .
• Wang AM, Schindler D, Desnick R . Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. . J. Clin. Invest. . 86 . 5 . 1752–6 . 1990 . 2243144 . 10.1172/JCI114901 . 296929 .
• Warner TG, Louie A, Potier M . Photolabeling of the alpha-neuraminidase/beta-galactosidase complex from human placenta with a photoreactive neuraminidase inhibitor. . Biochem. Biophys. Res. Commun. . 173 . 1 . 13–9 . 1991 . 2256909 . 10.1016/S0006-291X(05)81014-9 .
• Yamauchi T, Hiraiwa M, Kobayashi H, etal . Molecular cloning of two species of cDNAs for human alpha-N-acetylgalactosaminidase and expression in mammalian cells. . Biochem. Biophys. Res. Commun. . 170 . 1 . 231–7 . 1990 . 2372288 . 10.1016/0006-291X(90)91264-S .
• Tsuji S, Yamauchi T, Hiraiwa M, etal . Molecular cloning of a full-length cDNA for human alpha-N-acetylgalactosaminidase (alpha-galactosidase B). . Biochem. Biophys. Res. Commun. . 163 . 3 . 1498–504 . 1989 . 2551294 . 10.1016/0006-291X(89)91149-2 .
• Chabás A, Coll MJ, Aparicio M, Rodriguez Diaz E . Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. . J. Inherit. Metab. Dis. . 17 . 6 . 724–31 . 1995 . 7707696 . 10.1007/BF00712015 . 28205039 .
• Wang AM, Kanzaki T, Desnick RJ . The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. . J. Clin. Invest. . 94 . 2 . 839–45 . 1994 . 8040340 . 10.1172/JCI117404 . 296165 .
• de Jong J, van den Berg C, Wijburg H, etal . alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis. . J. Pediatr. . 125 . 3 . 385–91 . 1994 . 8071745 . 10.1016/S0022-3476(05)83281-0 .
• Keulemans JL, Reuser AJ, Kroos MA, etal . Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. . J. Med. Genet. . 33 . 6 . 458–64 . 1996 . 8782044 . 10.1136/jmg.33.6.458 . 1050630 .
• Den Tandt WR, Scharpé S . Micromethod for the fluorimetric determination of plasma N-acetyl-alpha-D-galactosaminidase and study of some of its characteristics. . Enzyme Protein . 49 . 5–6 . 273–80 . 1997 . 9252785 . 10.1159/000468637.
• Gaudet R, Savage JR, McLaughlin JN, etal . A molecular mechanism for the phosphorylation-dependent regulation of heterotrimeric G proteins by phosducin . Mol. Cell . 3 . 5 . 649–60 . 1999 . 10360181 . 10.1016/S1097-2765(00)80358-5 . free .
• Dunham I, Shimizu N, Roe BA, etal . The DNA sequence of human chromosome 22 . Nature . 402 . 6761 . 489–95 . 1999 . 10591208 . 10.1038/990031 . 1999Natur.402..489D . free .
• Ohta M, Ohnishi T, Ioannou YA, etal . Human alpha-N-acetylgalactosaminidase: site occupancy and structure of N-linked oligosaccharides . Glycobiology . 10 . 3 . 251–61 . 2000 . 10704524 . 10.1093/glycob/10.3.251 . free .
• Kodama K, Kobayashi H, Abe R, etal . A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation . Br. J. Dermatol. . 144 . 2 . 363–8 . 2001 . 11251574 . 10.1046/j.1365-2133.2001.04028.x . 23355968 . free .
• Mohamad SB, Nagasawa H, Uto Y, Hori H . Tumor cell alpha-N-acetylgalactosaminidase activity and its involvement in GcMAF-related macrophage activation . Comp. Biochem. Physiol. A. 132 . 1 . 1–8 . 2003 . 12062184 . 10.1016/S1095-6433(01)00522-0 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Collins JE, Wright CL, Edwards CA, etal . A genome annotation-driven approach to cloning the human ORFeome . Genome Biol. . 5 . 10 . R84 . 2005 . 15461802 . 10.1186/gb-2004-5-10-r84 . 545604 . free .

Notes and References

1. Web site: Entrez Gene: NAGA N-acetylgalactosaminidase, alpha-.