Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.2.1.76 extracted from

  • Kasper, D.C.; Iqbal, F.; Dvorakova, L.; Zeman, J.; Magner, M.; Bodamer, O.; Pollak, A.; Herkner, K.R.; Item, C.B.
    Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I (2010), Clin. Chim. Acta, 411, 345-350.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene IDUA, screening and genotyping of nonsense, 4 missense, 1 deletion, and 2 splice site intron mutations in 10 MPS I patients, development and evaluation of a dHPLC screening method, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
A327P naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens
C577GfsX15 naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens
D315Y naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens
E640Cfs naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens
additional information gene IDUA, screening and genotyping of nonsense, 4 missense, 1 deletion, and 2 splice site intron mutations in 10 MPS I patients, development and evaluation of a dHPLC screening method, overview Homo sapiens
Q380R naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens
Q70X naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens
R628X naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens
V620F naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens
W402X naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens
W626X naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens
Y167X naturally occuring mutation in the IDUA gene from an MPS I patient Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
gene IDUA
-

Synonyms

Synonyms Comment Organism
alpha-L-iduronidase
-
Homo sapiens
alpha-L-iduronidase A
-
Homo sapiens
IDUA
-
Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in the IDUA gene cause mucopolysaccharidosis type I, MPS I, a progressive multisystem disorder with features ranging over a continuum from mild to severe which is inherited in an autosomal recessive manner Homo sapiens