BTD
Function
Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.
Involvement in disease
Biotinidase deficiency
BTD deficiency
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family.
Cellular localization
- Secreted
- Extracellular space
Alternative names
Biotinidase, Biotinase, BTD