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Literature summary for 3.5.1.12 extracted from

  • Iqbal, F.; Item, C.B.; Vilaseca, M.A.; Jalan, A.; Muehl, A.; Couce, M.L.; Duat, A.; Delgado, M.P.; Bosch, J.; Puche, A.; Campistol, J.; Pineda, M.; Bodamer, O.A.
    The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC) (2010), Mol. Genet. Metab., 100, 42-45.
    View publication on PubMed
Search for more literature for 3.5.1.12

Cloned(Commentary)

Cloned (Comment) Organism
DNA and amino acid sequence determination and analysis, genotyping in patients from Austria, India, Morocco, and Spain with enzyme deficiency Homo sapiens

Protein Variants

Protein Variants Comment Organism
G34D/G114V naturally occuring mutation in a Spanish patient with enzyme deficiency Homo sapiens
L71P naturally occuring mutation, with additional frameshift mutation in this mutant, in an Indian patient with enzyme deficiency Homo sapiens
additional information identification of several frameshift mutations, overview Homo sapiens
P187S naturally occuring mutation in an Austrian patient with enzyme deficiency Homo sapiens
R538C naturally occuring mutation, with additional frameshift mutation in this mutant, in a Spanish patient with enzyme deficiency Homo sapiens
S311R naturally occuring mutation in a Spanish patient with enzyme deficiency Homo sapiens
Y425Ter naturally occuring mutation, with additional frameshift mutation in this mutant, in several Austrian patients with enzyme deficiency Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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General Information

General Information Comment Organism
malfunction biotinidase deficiency is an autosomal recessive disorder of biotin metabolism that causes incomplete recycling of free biotin. The resulting depletion of intracellular biotin leads to impaired activities of biotin-dependent carboxylases. The ensuing clinical phenotype includes progressive neurologic deterioration with epileptic seizures, muscular hypotonia as well as skin eczema Homo sapiens