Recombinant Human Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (DBT)

1. The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved. PMID: 24268812
2. Deletion in DBT gene is associated with maple syrup urine disease. PMID: 23313820
3. 4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein PMID: 20570198
4. a distinct subset of antimitochondrial antibodies recognize sequences on branched-chain acyltransferase which located outside of the lipoyl binding domain, in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis PMID: 14768949
5. presence of the interdomain linker restricts the motional freedom of the hbSBD more significantly than hbLBD, and that the linker region likely exists as a soft rod rather than a flexible string in solution. PMID: 16861235
6. in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes PMID: 17922217
7. 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time. PMID: 18378174
8. Examination of the deletion mutation in the E2 (DBT) gene facilitated early MSUD diagnosis and was beneficial for the determination of the proper course of treatment. PMID: 18533943
9. In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene. PMID: 19480318
10. two novel type IB MSUD mutations in Israeli patients, which affect the E1beta subunit in the decarboxylase (E1) component of the branched-chain alpha-ketoacid dehydrogenase complex PMID: 11448970
11. Mutation in DBT causes a subset of maple syrup urine disease in Ashkenazi Jewish population. PMID: 11509994

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HGNC: 2698

OMIM: 248600

KEGG: hsa:1629

STRING: 9606.ENSP00000359151

UniGene: Hs.709187