PDHB - pyruvate dehydrogenase E1 subunit beta Gene

Homo sapiens

Also known as PDHBD; PHE1B; E1beta; PDHE1B; PDHE1-B

Gene ID: 5162 | Gene type: protein coding

About PDHB

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,427,630-58,433,832 (from NCBI)

This gene has 10 transcripts (splice variants), 224 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 60.3), kidney (RPKM 43.5) and 25 other tissues.

Summary

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 Enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]

PDHB Products(3)

mRNA	Protein	Name
NM_000925.4	NP_000916.2	pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 precursor
NM_001173468.2	NP_001166939.1	pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 2 precursor
NM_001315536.2	NP_001302465.1	pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 3

PDHB Protein Structure

Transket_pyr

Transketolase_C

0
100
200
300
359 a.a.

Protein Preferred Names

Protein Names

pyruvate dehydrogenase E1 component subunit beta, mitochondrial

epididymis secretory sperm binding protein

Related Diseases

Diseases

Alias

Pyruvate Dehydrogenase E1-Beta Deficiency

PDHBD	Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency
Pdh Deficiency	Pyruvate Dehydrogenase Deficiency
Pyruvate Dehydrogenase Complex Deficiency Disease

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency	Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Decarboxylase Deficiency	Pdh Deficiency
PDHAD	Pyruvate Dehydrogenase Complex Deficiency Disease
Ataxia With Lactic Acidosis I	Ataxia With Lactic Acidosis 1
Pdh	Pdhc
Ataxia With Lactic Acidosis	Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency	Deficiency Of Pyruvic Dehydrogenase
Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency	Pdc Deficiency
Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency	Pdhc Deficiency
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency	Ataxia Intermittent With Abnormal Pyruvate Metabolism
Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency	Pyruvate Dehydrogenase E1 Alpha Deficiency
Pdc - [Pyruvate Dehydrogenase Complex] Deficiency	Ataxia With Lactic Acidosis 2

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Sotos Syndrome 2

Sotos2

Sotos Syndrome, Type 2

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10263	PDHB Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PDHB	RGD	RGD:1359146
Mus musculus	PDHB	MGD	MGI:1915513
Macaca mulatta	PDHB	VGNC	VGNC:75931
Felis catus	PDHB	VGNC	VGNC:68774
Bos taurus	PDHB	VGNC	VGNC:49151