HGSNAT

From Wikipedia, the free encyclopedia


Heparan-alpha-glucosaminide N-acetyltransferase
Identifiers
Symbol(s) HGSNAT; DKFZp686G24175; FLJ22242; FLJ32731; HGNAT; MPS3C; TMEM76
External IDs OMIM: 610453 HomoloGene15586
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 138050 n/a
Ensembl ENSG00000165102 n/a
Uniprot Q68CP4 n/a
Refseq XM_372038 (mRNA)
XP_372038 (protein)
n/a (mRNA)
n/a (protein)
Location Chr 8: 43.11 - 43.18 Mb n/a
Pubmed search [1] n/a

Heparan-alpha-glucosaminide N-acetyltransferase, also known as HGSNAT, is a human gene.[1]


[edit] References

[edit] Further reading

  • 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. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Ausseil J, Loredo-Osti JC, Verner A, et al. (2005). "Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.". J. Med. Genet. 41 (12): 941–5. doi:10.1136/jmg.2004.021501. PMID 15591281. 
  • Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560. 
  • Nusbaum C, Mikkelsen TS, Zody MC, et al. (2006). "DNA sequence and analysis of human chromosome 8.". Nature 439 (7074): 331–5. doi:10.1038/nature04406. PMID 16421571. 
  • Fan X, Zhang H, Zhang S, et al. (2006). "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).". Am. J. Hum. Genet. 79 (4): 738–44. doi:10.1086/508068. PMID 16960811. 
  • Hrebícek M, Mrázová L, Seyrantepe V, et al. (2006). "Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).". Am. J. Hum. Genet. 79 (5): 807–19. doi:10.1086/508294. PMID 17033958. 
  • Fedele AO, Filocamo M, Di Rocco M, et al. (2007). "Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.". Hum. Mutat. 28 (5): 523. doi:10.1002/humu.9488. PMID 17397050. 

[edit] External links