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MGP000341

UniProt Annotations

Entry Information
Gene Namebiotinidase
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P43251-1; Sequence=Displayed; Name=2; IsoId=P43251-2; Sequence=VSP_054925; Note=No experimental confirmation available.; Name=3; IsoId=P43251-3; Sequence=VSP_054926; Note=No experimental confirmation available.; Name=4; IsoId=P43251-4; Sequence=VSP_055921; Note=No experimental confirmation available.;
Catalytic ActivityBiotin amide + H(2)O = biotin + NH(3).
CautionIt is uncertain whether Met-1 or Met-21 is the initiator. {ECO:0000305}.
DiseaseBiotinidase deficiency (BTD deficiency) [MIM:253260]: A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. {ECO:0000269|PubMed:10206677, ECO:0000269|PubMed:9099842, ECO:0000269|PubMed:9654207}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.
SimilarityBelongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family. {ECO:0000305}.
SimilarityContains 1 CN hydrolase domain. {ECO:0000255|PROSITE- ProRule:PRU00054}.
Subcellular LocationSecreted, extracellular space.
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