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Literature summary extracted from

  • Angaroni, C.J.; Giner-Ayala, A.N.; Hill, L.P.; Guelbert, N.B.; Paschini-Capra, A.E.; de Kremer, R.D.
    Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook (2010), J. Inherit. Metab. Dis., 33 Suppl 2, S289-S294.
    View publication on PubMed

Application

EC Number Application Comment Organism
3.5.1.12 diagnostics BTD is a biomarker for the hepatic glycogen storage disease, overview Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.5.1.12 D444H naturally occuring mutation of BTD in patients with hepatic glycogen storage disease, GSD-Ia, the mutant shows normal enzyme activity compared to wild-type Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
3.5.1.12 extracellular
-
 Homo sapiens
-
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3.5.1.12 additional information Homo sapiens biotinidase, an amidohydrolase, catalyzes the cleavage of biotin from biocytin or biotinylated peptides formed from proteolytic degradation of the holocarboxylases and other biotinylated proteins ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
3.5.1.12 Homo sapiens P43251 hepatic glycogen storage disease patients from Argentina
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.5.1.12 liver BTD is synthesized by the liver and secreted into the circulation Homo sapiens
-
3.5.1.12 plasma BTD is synthesized by the liver and secreted into the circulation Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.5.1.12 additional information biotinidase, an amidohydrolase, catalyzes the cleavage of biotin from biocytin or biotinylated peptides formed from proteolytic degradation of the holocarboxylases and other biotinylated proteins Homo sapiens ?
-
 ?
3.5.1.12 N-biotinyl-3-amino benzoate + H2O
-
 Homo sapiens biotin + 3-aminobenzoate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.5.1.12 BTD
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
3.5.1.12 malfunction BTD mutation leads to hepatic glycogen storage diseases, overview Homo sapiens
3.5.1.12 physiological function BTD is responsible for recycling the vitamin biotin Homo sapiens