Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial (BCKDHA)

1. pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease PMID: 29673582
2. Data suggest that the following genetic modifications are involved in patients with maple syrup urine disease in Iran: (1) mutation in BCKDHA (branched chain keto acid dehydrogenase E1 alpha); (2) mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta); (3) mutation in DBT (dihydrolipoamide branched chain transacylase E2; one patient). PMID: 29306928
3. we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants PMID: 26830710
4. Five novel mutations in BCKDHA were identified in MSUD patients. PMID: 26453840
5. 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
6. Targeted parallel sequencing revealed novel mutations in the gene BCKDHA for prenatal testing of maple syrup urine disease. PMID: 24603436
7. Data from infant/her heterozygous parents (first cousins) suggest homozygous mutation (S144I) in BCKDHA can result in maple syrup urine disease (IA); molecular modeling suggests this missense mutation in exon 4 affects protein stability. [CASE STUDY] PMID: 23729548
8. Case Report: functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene in maple syrup urine disease. PMID: 20431954
9. A list of nine primary candidate genes for T2D and five for obesity were identified in this paper. Two genes, LPL and BCKDHA, were common to these two sets. PMID: 16757574
10. BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population. PMID: 22593002
11. autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome. PMID: 22956686
12. identified 4 novel mutations of the BCKDHA gene in 3 Korean newborns; to the best of knowledge, this is the first report of maple syrup urine disease confirmed by genetic analysis in Korea PMID: 21844576
13. Case Report: Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. PMID: 19085071
14. five mutations, three of them novel, responsible for maple syrup urine disease PMID: 19715473
15. the conformational stability underlying the folding of this lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase PMID: 15322287
16. 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
17. 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
18. A founder mutation in the BCKDHA is responsible for the high incidence of the maple syrup urine disease among Portuguese Gypsies. PMID: 19456321
19. 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

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HGNC: 986

OMIM: 248600

KEGG: hsa:593

STRING: 9606.ENSP00000269980

UniGene: Hs.433307