BCKDHB

Description		branched chain keto acid dehydrogenase E1 subunit beta
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GO Annotations	Cellular Component	Nucleoplasm Nucleolus Mitochondrion Mitochondrial Matrix Branched-chain Alpha-ketoacid Dehydrogenase Complex
	Molecular Function	Branched-chain 2-oxo Acid Dehydrogenase Activity Protein Binding Oxidoreductase Activity
	Biological Process	Lipid Metabolic Process Response To Nutrient 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		A body shape index ( 34021172) Adolescent idiopathic scoliosis ( 31417091) Appendicular lean mass ( 33097823) Diastolic blood pressure ( 30224653) Height ( 23563607 25282103 31562340 28552196) Hip circumference adjusted for BMI ( 34021172) Joint mobility (Beighton score) ( 27182965) Protein level change in low calorie diet obesity intervention ( 29234017) Prudent dietary pattern ( 28644415) Sitting height ratio ( 25865494) Spine bone size ( 31053729) Thiazide-induced adverse metabolic effects in hypertensive patients ( 23400010) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500) Waist circumference adjusted for BMI in active individuals ( 28448500) Waist circumference adjusted for body mass index ( 28448500 34021172) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 34021172)
Novel Interacting Genes		1 novel interacting genes: BCKDK
Interacting Genes		1 interacting genes: BCKDHA
Entrez ID		594
HPRD ID		02011
Ensembl ID		ENSG00000083123
Uniprot IDs		A0A140VKB3 B4E2N3 B7ZB80 P21953
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 Amino Acid Metabolic Process Branched-chain Amino Acid Catabolic Process Amino Acid Catabolic Process Carboxylic Acid Catabolic Process [3-methyl-2-oxobutanoate Dehydrogenase (acetyl-transferring)] Kinase Activity Amino Acid Metabolic Process Branched-chain 2-oxo Acid Dehydrogenase Activity Branched-chain Alpha-keto Acid Decarboxylation To Branched-chain Acyl-CoA Mitochondrial Matrix Branched-chain Alpha-ketoacid Dehydrogenase Complex Isoleucine Metabolic Process L-isoleucine Catabolic Process Pyruvate Dehydrogenase (acetyl-transferring) Kinase Activity L-valine Catabolic Process Catalytic Activity, Acting On A Protein Oxidoreductase Activity, Acting On The Aldehyde Or Oxo Group Of Donors, Disulfide As Acceptor Valine Metabolic Process L-leucine Catabolic Process Oxoglutarate Dehydrogenase Complex L-leucine Metabolic Process Regulation Of Pyruvate Decarboxylation To Acetyl-CoA Regulation Of Acyl-CoA Biosynthetic Process Organic Acid Metabolic Process Carboxylic Acid Metabolic Process Transferase Activity, Transferring Phosphorus-containing Groups Carboxy-lyase Activity Lipid Metabolic Process Aspartate Family Amino Acid Metabolic Process Small Molecule Metabolic Process Mitochondrion Fatty Acid Derivative Metabolic Process Proteinogenic Amino Acid Catabolic Process Regulation Of Amide Metabolic Process L-amino Acid Catabolic Process Acyl-CoA Metabolic Process Protein Serine/threonine Phosphatase Activity Regulation Of Glucose Metabolic Process Regulation Of Fatty Acid Metabolic Process Catabolic Process Regulation Of Ketone Metabolic Process L-amino Acid Metabolic Process Alpha-amino Acid Metabolic Process
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