Application | Comment | Organism |
---|---|---|
medicine | mucopolysaccharidosis type IIIC or Sanfilippo syndrome type C is an autosomal recessive disorder caused by deficiency of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | c.1-1925_118+296del, mutation, 2339-bp deletion including exon 1 | Homo sapiens |
additional information | c.1030C>T, missense mutation, predicted effect on protein, p.R344C | Homo sapiens |
additional information | c.1209G>T, missense mutation, predicted effect on protein, p.W403C | Homo sapiens |
additional information | c.1250+1G>A, splicing site mutation, intron 12 | Homo sapiens |
additional information | c.1250+2T>C, splicing site mutation, intron 12 | Homo sapiens |
additional information | c.1271dupG, mutation, predicted effect on protein, p.I425HfsX45 | Homo sapiens |
additional information | c.1411G>A, missense mutation, predicted effect on protein, p.E471K | Homo sapiens |
additional information | c.1441G>T, polymorphism, predicted effect on protein, p.V481L | Homo sapiens |
additional information | c.1457G>A, missense mutation, predicted effect on protein, p.G486E | Homo sapiens |
additional information | c.1466C>A, missense mutation, predicted effect on protein, p.A489E | Homo sapiens |
additional information | c.1516C>T, nonsense mutation, predicted effect on protein, p.R506X, premature termination codon | Homo sapiens |
additional information | c.1542+4dupA, splicing site mutation, intron 15 | Homo sapiens |
additional information | c.1553C>T, missense mutation, predicted effect on protein, p.S518F | Homo sapiens |
additional information | c.1622C>T, missense mutation, predicted effect on protein, p.S541L | Homo sapiens |
additional information | c.1674C>G, nonsense mutation, predicted effect on protein, p.Y558X, premature termination codon | Homo sapiens |
additional information | c.1843G>A, polymorphism, predicted effect on protein, p.A615T | Homo sapiens |
additional information | c.410T>C, missense mutation, predicted effect on protein, p.L137P | Homo sapiens |
additional information | c.493+1G>A, splicing site mutation, intron 4 | Homo sapiens |
additional information | c.641delG, mutation, predicted effect on protein, p.Gly214AspfsX62 | Homo sapiens |
additional information | c.739delA, mutation, predicted effect on protein, p.R247GfsX29 | Homo sapiens |
additional information | c.744-2A>G, splicing site mutation, intron 7 | Homo sapiens |
additional information | c.848C>T, missense mutation, predicted effect on protein, p.P283L | Homo sapiens |
additional information | c.852-1G>A, splicing site mutation, intron 9 | Homo sapiens |
additional information | c.887C>A, nonsense mutation, predicted effect on protein, p.S296X, premature termination codon | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosomal membrane | - |
Homo sapiens | 5765 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
acetyl-CoA + heparan sulfate alpha-D-glucosaminide | Homo sapiens | - |
CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
acetyl-CoA + heparan sulfate alpha-D-glucosaminide | - |
Homo sapiens | CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide | - |
? |
Synonyms | Comment | Organism |
---|---|---|
heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase | - |
Homo sapiens |
HGSNAT | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
acetyl-CoA | - |
Homo sapiens |