Biology:NAGA (gene)
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
References
Further reading
- "Disorders of glycoprotein degradation.". J. Inherit. Metab. Dis. 13 (4): 523–37. 1990. doi:10.1007/BF01799510. PMID 2122119.
- "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. doi:10.1016/0888-7543(91)90493-X. PMID 1646157.
- "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. doi:10.1016/S0021-9258(18)45818-8. PMID 2174888.
- "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. doi:10.1172/JCI114901. PMID 2243144.
- "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. doi:10.1016/S0006-291X(05)81014-9. PMID 2256909.
- "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. doi:10.1016/0006-291X(90)91264-S. PMID 2372288.
- "Molecular cloning of a full-length cDNA for human alpha-N-acetylgalactosaminidase (alpha-galactosidase B).". Biochem. Biophys. Res. Commun. 163 (3): 1498–504. 1989. doi:10.1016/0006-291X(89)91149-2. PMID 2551294.
- "Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.". J. Inherit. Metab. Dis. 17 (6): 724–31. 1995. doi:10.1007/BF00712015. PMID 7707696.
- "The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.". J. Clin. Invest. 94 (2): 839–45. 1994. doi:10.1172/JCI117404. PMID 8040340.
- "alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.". J. Pediatr. 125 (3): 385–91. 1994. doi:10.1016/S0022-3476(05)83281-0. PMID 8071745.
- "Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.". J. Med. Genet. 33 (6): 458–64. 1996. doi:10.1136/jmg.33.6.458. PMID 8782044.
- "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. doi:10.1159/000468637. PMID 9252785.
- "A molecular mechanism for the phosphorylation-dependent regulation of heterotrimeric G proteins by phosducin". Mol. Cell 3 (5): 649–60. 1999. doi:10.1016/S1097-2765(00)80358-5. PMID 10360181.
- "The DNA sequence of human chromosome 22". Nature 402 (6761): 489–95. 1999. doi:10.1038/990031. PMID 10591208. Bibcode: 1999Natur.402..489D.
- "Human alpha-N-acetylgalactosaminidase: site occupancy and structure of N-linked oligosaccharides". Glycobiology 10 (3): 251–61. 2000. doi:10.1093/glycob/10.3.251. PMID 10704524.
- "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. doi:10.1046/j.1365-2133.2001.04028.x. PMID 11251574.
- "Tumor cell alpha-N-acetylgalactosaminidase activity and its involvement in GcMAF-related macrophage activation". Comp. Biochem. Physiol. A 132 (1): 1–8. 2003. doi:10.1016/S1095-6433(01)00522-0. PMID 12062184.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. 2005. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
External links
- Overview of all the structural information available in the PDB for UniProt: P17050 (Human Alpha-N-acetylgalactosaminidase (NAGA)) at the PDBe-KB.
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