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3.5.1.12: biotinidase

This is an abbreviated version!
For detailed information about biotinidase, go to the full flat file.

Word Map on EC 3.5.1.12

Reaction

Biotin amide
+
H2O
=
biotin
 +
NH3

Synonyms

amidohydrolase biotinidase, biocytin hydrolyzing amidase, biotinidase, biotinyl-hydrolase, BTD, lipoamidase, lipolysine hydrolase, lipoyl-X-hydrolase

ECTree

     3 Hydrolases
         3.5 Acting on carbon-nitrogen bonds, other than peptide bonds
             3.5.1 In linear amides
                3.5.1.12 biotinidase

Cloned

Cloned on EC 3.5.1.12 - biotinidase

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CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
cDNA from a liver library encoding biotinidase cloned and sequenced
-
DNA and amino acid sequence determination and analysis, genotyping in patients from Austria, India, Morocco, and Spain with enzyme deficiency
-
enzyme expression and immunohistochemic analysis in 169 different samples of thyroid cancer, overview
genotyping of biotinidase deficiency algerian patient genes, PCR, mutation analysis reveals three mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3
genotyping of biotinidase deficiency american patient genes, quantitative real-time reverse-transcription PCR, most mutations in exon 4, overview
genotyping of biotinidase deficiency greek patient genes, real-time PCR
genotyping of Hungarian population, the most common biotinidase variant alleles are higher in the Hungarian population than in other Caucasian populations
-
PCR amplification mutational hotspot in biotinidase gene identified, causes biotinidase deficiency, located on chromosome 3p25
-
the variants Leu40Pro, Cys160Tyr, Asp222Asn, Asp444His, Leu446Pro, Asn489Ser and the wild type gene are expressed in HEK 293 cells