BCKDHB - branched chain keto acid dehydrogenase E1 subunit beta Gene

Homo sapiens

Also known as E1B; BCKDE1B; BCKDH E1-beta

Gene ID: 594 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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