BTD
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BTD (biotinidase) is a human gene that provides instructions for making an enzyme called biotinidase. This enzyme allows the body to use and to recycle the B vitamin biotin, sometimes called vitamin H. Biotinidase removes biotin from food because the body needs biotin in its free, unattached form. This enzyme also recycles biotin from enzymes in the body that use it as a helper component in order to function. These enzymes, known as carboxylases, are important in the processing of fats, carbohydrates and proteins. Biotin is attached to these carboxylase enzymes through an amino acid (the building material of proteins) called lysine, forming a complex called biocytin. Biotinidase removes biotin from biocytin and makes it available to be reused by other enzymes.
The BTD gene is located on the short (p) arm of chromosome 3 at position 25, from base pair 15,618,326 to base pair 15,662,328.
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Biotinidase deficiency is caused by mutations in the BTD gene. Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered. These mutations either prevent the enzyme from being made or cause the enzyme that is produced to be nonfunctional. When biotinidase activity is deficient, biotin can be neither recycled within the body nor removed from ingested food. Deficient biotinidase activity causes specific enzymes, called carboxylases, to be nonfunctional, inhibiting the proper processing of proteins, fats, and carbohydrates.
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[edit] References
- Dobrowolski SF, Angeletti J, Banas RA, Naylor EW (2003). "Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency". Mol Genet Metab 78 (2): 100-7. PMID 12618081.
- Hymes J, Stanley CM, Wolf B (2001). "Mutations in BTD causing biotinidase deficiency". Hum Mutat 18 (5): 375-81. PMID 11668630.
- McMahon RJ (2002). "Biotin in metabolism and molecular biology". Annu Rev Nutr 22: 221-39. PMID 12055344.
- Wolf B (2003). "Biotinidase Deficiency: New Directions and Practical Concerns". Curr Treat Options Neurol 5 (4): 321-328. PMID 12791199.
This article incorporates public domain text from the Genetics Home Reference, a service of the U.S. National Library of Medicine
