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Literature summary for 3.5.1.12 extracted from

  • Pomponio,R.J.; Reynolds, T.R.; Cole, H.; Buck, G.A.; Wolf, B.
    Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency (1995), Nature Genet., 11, 96-98.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
PCR amplification mutational hotspot in biotinidase gene identified, causes biotinidase deficiency, located on chromosome 3p25 Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
biotin amide + H2O Homo sapiens
-
?
-
?
epsilon-N-biotinyl-L-lysine + H2O Homo sapiens
-
?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
human
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
biotin amide + H2O
-
Homo sapiens ?
-
?
epsilon-N-biotinyl-L-lysine + H2O
-
Homo sapiens biotin + L-lysine
-
ir
epsilon-N-biotinyl-L-lysine + H2O
-
Homo sapiens ?
-
?