NAGA (gene)

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N-acetylgalactosaminidase, alpha-
Identifiers
Symbol(s) NAGA; D22S674; GALB
External IDs OMIM: 104170 MGI: 1261422 HomoloGene: 221
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 4668 17939
Ensembl ENSG00000198951 ENSMUSG00000022453
Uniprot P17050 Q3U6T2
Refseq NM_000262 (mRNA)
NP_000253 (protein)		 NM_008669 (mRNA)
NP_032695 (protein)
Location Chr 22: 40.78 - 40.8 Mb Chr 15: 82.16 - 82.17 Mb
Pubmed search [1] [2]

N-acetylgalactosaminidase, alpha-, also known as NAGA, is a human 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]

[edit] References

  1. ^ a b Entrez Gene: NAGA N-acetylgalactosaminidase, alpha-.

[edit] Further reading

  • Cantz M, Ulrich-Bott B (1990). "Disorders of glycoprotein degradation.". J. Inherit. Metab. Dis. 13 (4): 523–37. PMID 2122119. 
  • Wang AM, Desnick RJ (1991). "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. PMID 1646157. 
  • Wang AM, Bishop DF, Desnick RJ (1991). "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. PMID 2174888. 
  • Wang AM, Schindler D, Desnick R (1990). "Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.". J. Clin. Invest. 86 (5): 1752–6. PMID 2243144. 
  • Warner TG, Louie A, Potier M (1991). "Photolabeling of the alpha-neuraminidase/beta-galactosidase complex from human placenta with a photoreactive neuraminidase inhibitor.". Biochem. Biophys. Res. Commun. 173 (1): 13–9. PMID 2256909. 
  • Yamauchi T, Hiraiwa M, Kobayashi H, et al. (1990). "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. PMID 2372288. 
  • Tsuji S, Yamauchi T, Hiraiwa M, et al. (1989). "Molecular cloning of a full-length cDNA for human alpha-N-acetylgalactosaminidase (alpha-galactosidase B).". Biochem. Biophys. Res. Commun. 163 (3): 1498–504. PMID 2551294. 
  • Chabás A, Coll MJ, Aparicio M, Rodriguez Diaz E (1995). "Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.". J. Inherit. Metab. Dis. 17 (6): 724–31. PMID 7707696. 
  • Wang AM, Kanzaki T, Desnick RJ (1994). "The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.". J. Clin. Invest. 94 (2): 839–45. PMID 8040340. 
  • de Jong J, van den Berg C, Wijburg H, et al. (1994). "alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.". J. Pediatr. 125 (3): 385–91. PMID 8071745. 
  • Keulemans JL, Reuser AJ, Kroos MA, et al. (1996). "Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.". J. Med. Genet. 33 (6): 458–64. PMID 8782044. 
  • Den Tandt WR, Scharpé S (1997). "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. PMID 9252785. 
  • Gaudet R, Savage JR, McLaughlin JN, et al. (1999). "A molecular mechanism for the phosphorylation-dependent regulation of heterotrimeric G proteins by phosducin.". Mol. Cell 3 (5): 649–60. PMID 10360181. 
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208. 
  • Ohta M, Ohnishi T, Ioannou YA, et al. (2000). "Human alpha-N-acetylgalactosaminidase: site occupancy and structure of N-linked oligosaccharides.". Glycobiology 10 (3): 251–61. PMID 10704524. 
  • Kodama K, Kobayashi H, Abe R, et al. (2001). "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. PMID 11251574. 
  • Mohamad SB, Nagasawa H, Uto Y, Hori H (2003). "Tumor cell alpha-N-acetylgalactosaminidase activity and its involvement in GcMAF-related macrophage activation.". Comp. Biochem. Physiol., Part A Mol. Integr. Physiol. 132 (1): 1–8. PMID 12062184. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802. 
 This article on a gene on chromosome 22 is a stub. You can help Wikipedia by expanding it.
v • d • e
Hydrolase: sugar hydrolases (EC 3.2)
3.2.1: Glycoside hydrolases
3.2.2: Hydrolysing N-Glycosyl compounds
v • d • e
Metabolism: carbohydrate metabolism - glycoprotein enzymes
Anabolism
Catabolism
Transport
M6P tagging
see also disorders