HGSNAT explained

heparan-alpha-glucosaminide N-acetyltransferase
Ec Number:	2.3.1.78
Cas Number:	79955-83-2
Go Code:	0015019

Heparan-α-glucosaminide N-acetyltransferase (also called "acetyl-CoA:heparan-α-D-glucosaminide N-acetyltransferase" and "acetyl-CoA:alpha-glucosaminide N-acetyltransferase") is an enzyme that in humans is encoded by the HGSNAT gene.^{[1] [2] [3]}

In enzymology, this enzyme belongs to the family of transferases, specifically those acyltransferases transferring groups other than aminoacyl groups. It is catalysed in the chemical reaction:

\rightleftharpoons CoA + heparan sulfate N-acetyl-α-D-glucosaminide

This enzyme participates in glycosaminoglycan degradation and glycan structures degradation. Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC.^[2]

Further reading

• 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 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Ausseil J, Loredo-Osti JC, Verner A, etal . Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. . J. Med. Genet. . 41 . 12 . 941–5 . 2005 . 15591281 . 10.1136/jmg.2004.021501 . 1735628 .
• Otsuki T, Ota T, Nishikawa T, etal . 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 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . free .
• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .
• Nusbaum C, Mikkelsen TS, Zody MC, etal . DNA sequence and analysis of human chromosome 8. . Nature . 439 . 7074 . 331–5 . 2006 . 16421571 . 10.1038/nature04406 . 2006Natur.439..331N . free .
• Fedele AO, Filocamo M, Di Rocco M, etal . 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 . 2007 . 17397050 . 10.1002/humu.9488 . 21940082 . free .
• Klein U, Kresse H, von Figura K . 1978 . Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts . Proc. Natl. Acad. Sci. U.S.A. . 75 . 5185 - 9 . 33384 . 10.1073/pnas.75.10.5185 . 10 . 336290 . free . 1978PNAS...75.5185K .
• Pohlmann R, Klein U, Fromme HG, von Figura K . 1981 . Localisation of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in microsomes and lysosomes of rat liver . Hoppe-Seyler's Z. Physiol. Chem. . 362 . 1199 - 207 . 7346380 . 9 . 10.1515/bchm2.1981.362.2.1199 .

Notes and References

1. Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV . Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome) . Am J Hum Genet . 79 . 5 . 807–19 . Oct 2006 . 17033958 . 1698556 . 10.1086/508294 .
2. Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ . Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C) . Am J Hum Genet . 79 . 4 . 738–44 . Sep 2006 . 16960811 . 1592569 . 10.1086/508068 .
3. Web site: Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase.