BCKDHA

Description		branched chain keto acid dehydrogenase E1 subunit alpha
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GO Annotations	Cellular Component	Mitochondrion Mitochondrial Matrix Branched-chain Alpha-ketoacid Dehydrogenase Complex
	Molecular Function	Branched-chain 2-oxo Acid Dehydrogenase Activity Protein Binding Oxidoreductase Activity Oxidoreductase Activity, Acting On The Aldehyde Or Oxo Group Of Donors, Disulfide As Acceptor Carboxy-lyase Activity Metal Ion Binding
	Biological Process	Branched-chain Amino Acid Catabolic Process Branched-chain Alpha-keto Acid Decarboxylation To Branched-chain Acyl-CoA
Pathways		Branched-chain amino acid catabolism BCKDH synthesizes BCAA-CoA from KIC, KMVA, KIV Loss-of-function mutations in DBT cause MSUD2 Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD Loss-of-function mutations in DLD cause MSUD3/DLDD Branched-chain ketoacid dehydrogenase kinase deficiency H139Hfs13* PPM1K causes a mild variant of MSUD
Drugs
Diseases		Maple syrup urine disease (MSUD)
GWAS		Height ( 25282103 31562340)
Interacting Genes		1 interacting genes: BCKDHB
Entrez ID		593
HPRD ID		02009
Ensembl ID		ENSG00000248098
Uniprot IDs		P12694 Q59EI3
PDB IDs		1DTW 1OLS 1OLU 1OLX 1U5B 1V11 1V16 1V1M 1V1R 1WCI 1X7W 1X7X 1X7Y 1X7Z 1X80 2BEU 2BEV 2BEW 2BFB 2BFC 2BFD 2BFE 2BFF 2J9F
Enriched GO Terms of Interacting Partners?		Branched-chain Alpha-keto Acid Decarboxylation To Branched-chain Acyl-CoA Branched-chain 2-oxo Acid Dehydrogenase Activity Branched-chain Alpha-ketoacid Dehydrogenase Complex Branched-chain Amino Acid Metabolic Process Branched-chain Amino Acid Catabolic Process Acyl-CoA Metabolic Process Fatty Acid Derivative Metabolic Process Amino Acid Catabolic Process Response To Nutrient Carboxylic Acid Catabolic Process Sulfur Compound Metabolic Process Amino Acid Metabolic Process
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