Literature summary for 3.5.1.12 extracted from

Borsatto, T.; Sperb-Ludwig, F.; Blom, H.J.; Schwartz, I.V.D.
Effect of BTD gene variants on in vitro biotinidase activity (2019), Mol. Genet. Metab., 127, 361-367 .

Search for more literature for 3.5.1.12

Cloned(Commentary)

Cloned (Comment)	Organism
the variants Leu40Pro, Cys160Tyr, Asp222Asn, Asp444His, Leu446Pro, Asn489Ser and the wild type gene are expressed in HEK 293 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
C160Y	impaired biotinidase activity (activity in cells: 14%, activity in medium: 0.3%) and undetectable amount of protein in intra and extracellular space. Variant identified among Brazilian individuals showing low activity of biotinidase in serum	Homo sapiens
D222N	variant shows normal activity	Homo sapiens
D444H	expression of the variant results in detectable protein and slightly reduced activity in cells (activity in cells: 46%; activity in medium: 115%)	Homo sapiens
L40P	impaired biotinidase activity (activity in cells: 33%, activity in medium: 7%) and undetectable amount of protein in intra and extracellular space. Variant identified among Brazilian individuals showing low activity of biotinidase in serum	Homo sapiens
L446P	impaired biotinidase activity (activity in cells: 0%, activity in medium: 2%) and undetectable amount of protein in intra and extracellular space. Variant identified among Brazilian individuals showing low activity of biotinidase in serum	Homo sapiens
N489S	activity in medium is 43% compared to wild-type activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P43251	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
biotinyl-4-amino benzoic acid + H2O	-	Homo sapiens	biotin + 4-aminobenzoic acid	-	?

Temperature Optimum [°C]

Temperature Optimum [°C]	Temperature Optimum Maximum [°C]	Comment	Organism
37	-	assay at	Homo sapiens

pH Optimum

pH Optimum Minimum	pH Optimum Maximum	Comment	Organism
6	-	assay at	Homo sapiens

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Release 2023.1 (January 2023)