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Literature summary for 3.5.1.12 extracted from

  • Milankovics, I.; Kamory, E.; Csokay, B.; Fodor, F.; Somogyi, C.; Schuler, A.
    Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary (2007), Mol. Genet. Metab., 90, 345-348.
    View publication on PubMed
Search for more literature for 3.5.1.12

Protein Variants

Protein Variants Comment Organism
A171T/D444H 15-27% activity compared to the wild type enzyme Homo sapiens
A82D 4% activity compared to the wild type enzyme Homo sapiens
C418S/D444H 24% activity compared to the wild type enzyme Homo sapiens
E112K/Q456H 1% activity compared to the wild type enzyme Homo sapiens
E112K/R538C 1% activity compared to the wild type enzyme Homo sapiens
E218Q/L278V 1% activity compared to the wild type enzyme Homo sapiens
E46X/D444H 20% activity compared to the wild type enzyme Homo sapiens
L215F/D444H 17% activity compared to the wild type enzyme Homo sapiens
L278V/D444H 14-20% activity compared to the wild type enzyme Homo sapiens
N195S/D444H 21% activity compared to the wild type enzyme Homo sapiens
Q456H 2% activity compared to the wild type enzyme Homo sapiens
Q456H/D444H 19-29% activity compared to the wild type enzyme Homo sapiens
Q456H/R538C 2% activity compared to the wild type enzyme Homo sapiens
R157C/D444H 18-23% activity compared to the wild type enzyme Homo sapiens
R538C/D444H 16-25% activity compared to the wild type enzyme Homo sapiens
T152P/D444H 20% activity compared to the wild type enzyme Homo sapiens
V199M/R211C 8% activity compared to the wild type enzyme Homo sapiens
V62M 1% activity compared to the wild type enzyme Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
biotinyl-p-aminobenzoate + H2O
-
 Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
biotinyl-hydrolase
-
 Homo sapiens