NAGA (gene)

Revision as of 19:55, 4 September 2012 by WikiBot (talk | contribs) (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search


N-acetylgalactosaminidase, alpha-
Identifiers
Symbols NAGA ; D22S674; GALB
External IDs Template:OMIM5 Template:MGI HomoloGene221
RNA expression pattern
File:PBB GE NAGA 202943 s at tn.png
File:PBB GE NAGA 202944 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

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]

References

  1. 1.0 1.1 "Entrez Gene: NAGA N-acetylgalactosaminidase, alpha-".

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.

Template:WikiDoc Sources