Gene Detail
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| Gene Symbol | BTD | ||||||||||
| Synonyms | |||||||||||
| Gene Description | BTD, biotinidase, encodes an enzyme required for generating free biotin through hydrolysis of protein-bound biotin compounds, and may also function as a serum biotinyl transferase (PMID: 7509806, PMID: 10064314, PMID: 31973013). BTD mutations are associated with the metabolic disorder known as biotinidase deficiency (PMID: 31337602, PMID: 31973013, PMID: 33364171), and decreased BTD expression is a potential biomarker for breast cancer detection (PMID: 20346108) and prognosis of cervical carcinoma (PMID: 21319141) and papillary thyroid cancer (PMID: 22911723). | ||||||||||
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