From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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 .
[5]
[6]
[7]
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 :
acetyl-CoA +
heparan sulfate α-D-glucosaminide
⇌
{\displaystyle \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.
[6]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000165102 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000037260 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ 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 (Oct 2006).
"Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)" . Am J Hum Genet . 79 (5): 807–19.
doi :
10.1086/508294 .
PMC
1698556 .
PMID
17033958 .
^
a
b Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ (Sep 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 .
PMC
1592569 .
PMID
16960811 .
^
"Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase" .
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.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
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 .
PMC
1735628 .
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 .
PMC
1356129 .
PMID
16344560 .
Nusbaum C, Mikkelsen TS, Zody MC, et al. (2006).
"DNA sequence and analysis of human chromosome 8" . Nature . 439 (7074): 331–5.
Bibcode :
2006Natur.439..331N .
doi :
10.1038/nature04406 .
PMID
16421571 .
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 .
S2CID
21940082 .
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 (10): 5185–9.
Bibcode :
1978PNAS...75.5185K .
doi :
10.1073/pnas.75.10.5185 .
PMC
336290 .
PMID
33384 .
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 (9): 1199–207.
doi :
10.1515/bchm2.1981.362.2.1199 .
PMID
7346380 .
Activity Regulation Classification Kinetics Types