Localization of serum biotinidase (BTD) to human chromosome 3 in band p25.

Abstract

Biotinidase (EC 3.5.1.12) recycles the vitamin biotin by catalyzing the hydrolysis of biocytin, the product of biotin-dependent carboxylase degradation, to biotin and lysine. Biotinidase deficiency is a metabolic disorder that is inherited as an autosomal recessive trait and can be successfully treated with biotin supplementation. Children with biotinidase deficiency who are not treated usually exhibit neurological and cutaneous abnormalities. We have cloned and sequenced the cDNA for human serum biotinidase and now report the chromosomal localization of the gene encoding the enzyme. Fluorescence in situ hybridization (FISH) techniques using a genomic fragment mapped the locus of the biotinidase gene to chromosome 3 in band p25. 4 refs., 1 fig.