Gene BCKDHA : branched chain keto acid dehydrogenase E1, alpha polypeptide in Bos taurus

See the equivalent entry at NCBI

Symbol: BCKDHA

Description: branched chain keto acid dehydrogenase E1, alpha polypeptide

Type of gene: protein-coding

NCBI gene id: 282149

Other designations: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial|BCKDE1A|BCKDH E1-alpha|branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)|branched-chain alpha-keto acid dehydrogenase E1 component alpha chain

Links: Homologene , Ensembl

Genomic location: 18:50541524..50560679 [Chromosome accession NC_037345.1]

Related phenes:

OMIA:000627-9913 : Maple syrup urine disease, BCKDHA-related in Bos taurus

Reference


1988 Hu, C.W., Lau, K.S., Griffin, T.A., Chuang, J.L., Fisher, C.W., Cox, R.P., Chuang, D.T. :
Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells Journal of Biological Chemistry 263:9007-9014, 1988. Pubmed reference: 3379058.