检测编号：NS0260052

基因 BTD 与疾病

BTD基因编码生物素酰胺酶，该酶可从食物中分离出已经与蛋白质结合的生物素，游离的生物素在分解脂肪、蛋白质、糖类中均具有重要作用。BTD基因突变导致生物素酰胺酶活性下降，重症者活性低于10%,较轻者在10%-30%；生物素酰胺酶活性缺失导致有害代谢产物累积。因此，只需及时、足量补充游离生物素，即可阻止并发症出现或改善病症。

基因名称	基因全名	基因位置	外显子个数	CDS长度
BTD	biotinidase	3p25	4	约2071 bp
基因摘要	The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013].