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Literature summary for 3.1.6.13 extracted from

  • Lualdi, S.; Tappino, B.; Di Duca, M.; Dardis, A.; Anderson, C.J.; Biassoni, R.; Thompson, P.W.; Corsolini, F.; Di Rocco, M.; Bembi, B.; Regis, S.; Cooper, D.N.; Filocamo, M.
    Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome (2010), Hum. Mutat., 31, E1261-E1285.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
full-length IDS cDNA amplified and cloned into the pCR2.1-TOPO vector Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms Comment Organism
IDS
-
Homo sapiens
iduronate-2-sulfatase
-
Homo sapiens

Expression

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

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