Maple syrup urine disease（枫糖尿症） |
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BCKDHA, BCKDHB, DBT 这三个基因的表达产物结合成一个多酶复合体，代谢食物中的支链氨基酸亮氨酸、异亮氨酸和缬氨酸。这3个基因中任何一个突变都会造成机体无法代谢上述氨基酸，这些氨基酸及其副产品在体内堆积，对大脑及身体器官造成损害。
DBT基因编码BCKD多酶复合体（支链α-酮酸脱氢酶多酶复合体）的E2单元，已发现30多种突变，包括插入、缺失和点突变。
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
|---|---|---|---|---|
| DBT | dihydrolipoamide branched chain transacylase E2 | 1p31 | 11 | 约10815 bp |
| 基因摘要 | The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. | |||