MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000093

UniProt Annotations

Entry Information

Gene Name	biotinidase
Protein Entry
UniProt ID
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Activity	Biotin amide + H(2)O = biotin + NH(3).
Caution	It is uncertain whether Met-1 or Met-21 is the initiator. {ECO:0000305}.
Disease	Biotinidase 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.
Function	Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.
Similarity	Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family. {ECO:0000305}.
Similarity	Contains 1 CN hydrolase domain. {ECO:0000255\|PROSITE- ProRule:PRU00054}.
Subcellular Location	Secreted, extracellular space.