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Literature summary for 3.5.1.12 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
Search for more literature for 3.5.1.12

Application

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

Protein Variants

Protein Variants Comment Organism
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

Localization Comment Organism GeneOntology No. Textmining
extracellular
-
 Homo sapiens
-
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
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

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

Source Tissue

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

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
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 ?
-
 ?
N-biotinyl-3-amino benzoate + H2O
-
 Homo sapiens biotin + 3-aminobenzoate
-
 ?

Synonyms

Synonyms Comment Organism
BTD
-
 Homo sapiens

General Information

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