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biotinidase; biotinase; (BTD)
Function:
- catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation
biotin amide + H2O biotin + NH3
Structure:
- N-glycosylated
- belongs to the CN hydrolase family, BTD/VNN subfamily
- contains 1 CN hydrolase domain
Compartment: secreted, extracellular space
Pathology:
- defects in BTD are the cause of biotinidase deficiency
General
glycoprotein
hydrolase
secreted protein
Properties
SIZE: entity length = 523 aa
MW = 59 kD
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-21}
CN hydrolase {37-343}
MOTIF: glutamate residue {E92}
N-glycosylation site {N99}
N-glycosylation site {N130}
N-glycosylation site {N183}
lysine residue {K192}
cysteine residue {C225}
N-glycosylation site {N329}
N-glycosylation site {N382}
N-glycosylation site {N469}
Database Correlations
OMIM correlations
MORBIDMAP 609019
UniProt P43251
Pfam PF00795
Entrez Gene 686
Kegg hsa:686
ENZYME 3.5.1.12
References
- UniProt :accession P43251
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=BTD