Literature summary 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.

Protein Variants

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

Organism

EC Number	Organism	UniProt	Comment	Textmining
3.5.1.12	Homo sapiens	-	-	-

Substrates and Products (Substrate)

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

Synonyms

EC Number	Synonyms	Comment	Organism
3.5.1.12	biotinyl-hydrolase	-	Homo sapiens

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Release 2023.1 (January 2023)