Cloned (Comment) | Organism |
---|---|
full-length IDS cDNA amplified and cloned into the pCR2.1-TOPO vector | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl-alpha-L-iduronide-2-sulfate + H2O | - |
Homo sapiens | 4-methylumbelliferyl-alpha-L-iduronide + sulfate | - |
? |
Synonyms | Comment | Organism |
---|---|---|
IDS | - |
Homo sapiens |
iduronate-2-sulfatase | - |
Homo sapiens |
Organism | Comment | Expression |
---|---|---|
Homo sapiens | although IDS transcript levels are reduced (51-71% normal) in Hunter syndrome patients, some wild-type IDS protein is detectable | down |
Homo sapiens | presence of wild-type IDS mRNA-transcripts in Hunter syndrome patients, but no wild-type IDS genomic sequence detectable | additional information |
General Information | Comment | Organism |
---|---|---|
malfunction | Italian Hunter syndrome patients show a lack of concordance between IDS genomic DNA and cDNA: presence of wild-type IDS sequence as well as the mutated sequence in cDNA from one or more tissues, but no wild-type IDS sequence is evident in the genomic DNAs derived from these patients, a correction mechanism such as RNA editing may potentially account for this. These Hunter syndrome patients are hemizygous respectively for a nonsense mutation (c.22C>T,p.R8X) and a frameshift micro-insertion (c.10insT,p.P4Sfs) in their genomic DNA. Since both p.R8X mutations are inherited from carrier mothers, somatic mosaicism can be excluded | Homo sapiens |