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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

HGSNAT  -  heparan-alpha-glucosaminide N...

Homo sapiens

Synonyms: FLJ32731, HGNAT, Heparan-alpha-glucosaminide N-acetyltransferase, MPS3C, TMEM76, ...
 
 
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Disease relevance of HGSNAT

 

High impact information on HGSNAT

  • We report the narrowing of the candidate region to a 2.6-cM interval between D8S1051 and D8S1831 and the identification of the transmembrane protein 76 gene (TMEM76), which encodes a 73-kDa protein with predicted multiple transmembrane domains and glycosylation sites, as the gene that causes MPS IIIC when it is mutated [1].
  • In an ongoing proteomics study of mouse lysosomal membrane proteins, we identified an unknown protein whose human homolog, TMEM76, was encoded by a gene that maps to 8p11 [2].
  • Functional expression of human TMEM76 and the mouse ortholog demonstrates that it is the gene that encodes the lysosomal N-acetyltransferase and suggests that this enzyme belongs to a new structural class of proteins that transport the activated acetyl residues across the cell membrane [1].

References

  1. Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). Hrebicek, M., Mrazova, L., Seyrantepe, V., Durand, S., Roslin, N.M., 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, C.E., Maire, I., Poorthuis, B.J., van de Kamp, J., van Diggelen, O.P., Wevers, R.A., Hudson, T.J., Fujiwara, T.M., Majewski, J., Morgan, K., Kmoch, S., Pshezhetsky, A.V. Am. J. Hum. Genet. (2006) [Pubmed]
  2. Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C). Fan, X., Zhang, H., Zhang, S., Bagshaw, R.D., Tropak, M.B., Callahan, J.W., Mahuran, D.J. Am. J. Hum. Genet. (2006) [Pubmed]
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