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Gene Review:

BCKDHB - branched chain keto acid dehydrogenase E1,...

Homo sapiens

Synonyms: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, BCKDE1B, BCKDH E1-beta, Branched-chain alpha-keto acid dehydrogenase E1 component beta chain, E1B, ...

Nobukuni, Y. et al., Rodríguez-Pombo, P. et al., Zneimer, S.M. et al., Edelmann, L. et al., Nobukuni, Y. et al.

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High impact information on BCKDHB

This 11-bp sequence is found in the first exon of the BCKDH-E1 beta gene, as a direct tandem repeat [1].
Comparison of the amino acid sequence predicted from the nucleotide sequence of the cDNA insert of the clone with the NH2-terminal amino acid sequence of the purified mature bovine BCKDH-E1 beta subunit showed that the cDNA insert encodes for a 342-amino acid subunit with a Mr = 37,585 [2].
A search for protein homology revealed that the primary structure of human BCKDH-E1 beta was similar to the bovine BCKDH-E1 beta and to the E1 beta subunit of human pyruvate dehydrogenase complex, in all regions [2].
On the basis of genotyping data suggestive of a conserved haplotype at tightly linked markers on chromosome 6q14, the BCKDHB gene encoding the E1beta subunit was sequenced [3].
In this study, the human E1 beta gene (BCKDHB) has been localized to human chromosome 6 by hybrid somatic cell analysis, and regionally assigned to chromosome bands 6p21-22 by in situ hybridization [4].

Other interactions of BCKDHB

92.5% of alleles have been characterized, and the mutational spectrum includes 36 different sequence variations presumably leading to loss-of-function, 15 changes in the BCKDHA, 14 in the BCKDHB, and seven in the DBT genes [5].

References

Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. Nobukuni, Y., Mitsubuchi, H., Akaboshi, I., Indo, Y., Endo, F., Yoshioka, A., Matsuda, I. J. Clin. Invest. (1991) [Pubmed]
Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. Nobukuni, Y., Mitsubuchi, H., Endo, F., Akaboshi, I., Asaka, J., Matsuda, I. J. Clin. Invest. (1990) [Pubmed]
Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Edelmann, L., Wasserstein, M.P., Kornreich, R., Sansaricq, C., Snyderman, S.E., Diaz, G.A. Am. J. Hum. Genet. (2001) [Pubmed]
Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31. Zneimer, S.M., Lau, K.S., Eddy, R.L., Shows, T.B., Chuang, J.L., Chuang, D.T., Cox, R.P. Genomics (1991) [Pubmed]
Mutational spectrum of maple syrup urine disease in Spain. Rodríguez-Pombo, P., Navarrete, R., Merinero, B., Gómez-Puertas, P., Ugarte, M. Hum. Mutat. (2006) [Pubmed]

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AgaP_AGAP007531	Anopheles gambiae str. PEST
DIN4	Arabidopsis thaliana
BCDH BETA1	Arabidopsis thaliana
BCKDHB	Bos taurus
tag-173	Caenorhabditis elegans
BCKDHB	Canis lupus familiaris
bckdhb	Danio rerio
CG17691	Drosophila melanogaster
BCKDHB	Gallus gallus
MGG_06511	Magnaporthe oryzae 70-15
Bckdhb	Mus musculus
NCU03913	Neurospora crassa OR74A
Os07g0170100	Oryza sativa Japonica Group
BCKDHB	Pan troglodytes
Bckdhb	Rattus norvegicus
bckdhb	Xenopus (Silurana) tropicalis

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