BCKDHB - branched chain keto acid dehydrogenase E1 subunit beta Gene

Also Known as E1B; BCKDE1B; BCKDH E1-beta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 594

About BCKDHB

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:80,106,610-80,466,676 (from NCBI)

This gene has 6 transcripts (splice variants), 211 orthologues, 4 paralogues and is associated with 6 phenotypes. Ubiquitous expression in liver (RPKM 2.7), fat (RPKM 2.3) and 25 other tissues.

Summary

This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain Amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]

BCKDHB Products (3)

mRNA	Protein	Name
NM_000056.5	NP_000047.1	2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1 precursor
NM_001318975.1	NP_001305904.1	2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 2
NM_183050.4	NP_898871.1	2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IDA IDA: Inferred from direct assay	9582350	GOA
contributes to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IMP IMP: Inferred from mutant phenotype	2022752	GOA
contributes to branched-chain alpha-keto acid dehydrogenase activity	IDA IDA: Inferred from direct assay	3593587	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10745006	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in branched-chain amino acid catabolic process	IDA IDA: Inferred from direct assay	3593587	GOA
involved in branched-chain amino acid catabolic process	IMP IMP: Inferred from mutant phenotype	2022752	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of branched-chain alpha-ketoacid dehydrogenase complex	IDA IDA: Inferred from direct assay	9582350	GOA
part of branched-chain alpha-ketoacid dehydrogenase complex	IMP IMP: Inferred from mutant phenotype	2022752	GOA
part of branched-chain alpha-ketoacid dehydrogenase complex	IPI IPI: Inferred from physical interaction	3593587	GOA
located in mitochondrion	IMP IMP: Inferred from mutant phenotype	2022752	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCKDHB Protein Structure

Transket_pyr

Transketolase_C

0
100
200
300
392 a.a.

Protein Preferred Names	Protein Names
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial	E1b-beta subunit of the branched-chain complex

BCKDHB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BCKDHB	P21953	BCKDHA	Homo sapiens	P12694	Anti Tag CoIP	33961781
Intra	BCKDHB	P21953	BCKDHA	Homo sapiens	P12694	X-Ray Diffraction	15166214
Intra	BCKDHB	P21953	BCKDHA	Homo sapiens	P12694	Anti Tag CoIP	28514442
Intra	BCKDHB	P21953	BCKDHA	Homo sapiens	P12694	X-Ray Diffraction	15576032
Intra	BCKDHB	P21953	BCKDHA	Homo sapiens	P12694	X-Ray Diffraction	12902323

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Dihydrolipoamide Dehydrogenase Deficiency	Dld Deficiency E3 Deficiency Pyruvate Dehydrogenase E3 Deficiency Maple Syrup Urine Disease, Type Iii DLDD E3-Deficient Maple Syrup Urine Disease Lactic Acidosis Due To Lipoamide Dehydrogenase Deficiency Lipoamide Dehydrogenase Deficiency Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due To Dihydrolipoyl Dehydrogenase Deficiency Lactic Acidosis Due To Lad Deficiency Maple Syrup Urine Disease Type Iii Msud Type Iii Msud Type 3 Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
Intermediate Maple Syrup Urine Disease	Intermediate Bckd Deficiency Intermediate Msud Intermediate Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency	BCKDKD Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency Bckdk Deficiency Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency
Epstein-Barr Virus Hepatitis
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Combined Oxidative Phosphorylation Deficiency 10	COXPD10 Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis Infantile Hypertrophic Mitochondrial Cardiomyopathy And Lactic Acidosis Combined Oxidative Phosphorylation Defect Type 10 Cardiomyopathy Infantile Hypertrophic Mitochondrial And Lactic Acidosis Combined Oxidative Phosphorylation Deficiency, Type 10
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Mitochondrial Complex Iii Deficiency Nuclear Type 2 MC3DN2 Mitochondrial Complex Ii Deficiency, Nuclear Type 3 MC2DN3 Mitochondrial Complex 2 Deficiency, Nuclear Type 3 Mitochondrial Complex Iii Deficiency, Nuclear 2
Isovaleric Acidemia	Isovaleric Acid Coa Dehydrogenase Deficiency Isovaleryl-Coa Dehydrogenase Deficiency IVA Ivd Deficiency Acidemia, Isovaleric Isovaleric Aciduria Isovaleryl Coa Carboxylase Deficiency Isovaleric Acid-Coa Dehydrogenase Deficiency
Argininosuccinic Aciduria	Argininosuccinate Lyase Deficiency Asl Deficiency Argininosuccinic Acid Lyase Deficiency Argininosuccinase Deficiency Argininosuccinic Acidemia Arginosuccinase Deficiency Asa Deficiency Argininosuccinicaciduria Asauria Deficiency Of Argininosuccinate Lyase Asld Arginino Succinase Deficiency Argininosuccinate Acidemia Inborn Error Of Urea Synthesis, Arginino Succinic Type Urea Cycle Disorder, Arginino Succinase Type Argininosuccinyl-Coa Lyase Deficiency Asa Argininosuccinatelyase Deficiency ARGINSA Aciduria Argininosuccinic Citrullinemia Argininosuccinic Acidaemia Metabolic Disorder Of Arginosuccinic Acid
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Glycine Encephalopathy	Non-Ketotic Hyperglycinemia Nonketotic Hyperglycinemia NKH GCE Hyperglycinemia, Nonketotic Hyperglycinemia Nonketotic Infantile Glycine Encephalopathy Encephalopathy, Glycine Glycine Synthase Deficiency Nka Neonatal Glycine Encephalopathy Classic Glycine Encephalopathy Neonatal Nkh Neonatal Non-Ketotic Hyperglycinemia Infantile Nkh Infantile Non-Ketotic Hyperglycinemia Non-Ketotic Hyperglycinaemia Glycine Cleavage Deficiency Nonketotic Hyperglycinaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01410	BCKDHB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BCKDHB	VGNC	VGNC:97245
Rattus norvegicus	BCKDHB	RGD	RGD:2197
Macaca mulatta	BCKDHB	VGNC	VGNC:70239
Felis catus	BCKDHB	VGNC	VGNC:69243
Canis familiaris	BCKDHB	VGNC	VGNC:38406
Mus musculus	BCKDHB	MGD	MGI:88137