PDHX - pyruvate dehydrogenase complex component X Gene

Homo sapiens

Also known as E3BP; OPDX; PDX1; proX; DLDBP; PDHXD

Gene ID: 8050 | Gene type: protein coding

About PDHX

Cytogenetic location: 11p13 Genomic coordinates (GRCh38): 11:34,915,920-34,996,128 (from NCBI)

This gene has 8 transcripts (splice variants), 211 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 24.7), testis (RPKM 13.6) and 25 other tissues.

Summary

The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 Phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial Antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

PDHX Products(3)

mRNA	Protein	Name
NM_001135024.2	NP_001128496.2	pyruvate dehydrogenase protein X component, mitochondrial isoform 2
NM_001166158.2	NP_001159630.1	pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor
NM_003477.3	NP_003468.2	pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor

PDHX Protein Structure

Biotin_lipoyl

E3_binding

2-oxoacid_dh

0
100
200
300
400
501 a.a.

Protein Preferred Names

Protein Names

pyruvate dehydrogenase protein X component, mitochondrial

dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex

Related Diseases

Diseases

Alias

Pyruvate Dehydrogenase E3-Binding Protein Deficiency

Lacticacidemia Due To Pdx1 Deficiency	PDHXD
Lactic Acidemia Due To Defect In Lipoyl-Containing Component X Of The Pyruvate Dehydrogenase Complex	2-Oxoglutarate Complex Deficiency
Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency	Diaphorase Deficiency
Dihydrolipoyl Dehydrogenase Deficiency	Glycine Cleavage System L Protein Deficiency
Lipoamide Dehydrogenase Deficiency	Pyruvate Dehydrogenase Complex Component E3 Deficiency
Pyruvate Dehydrogenase Protein X Component Deficiency	Nadh Cytochrome B5 Reductase Deficiency

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

Deafness, Autosomal Dominant 68

DFNA68	Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Deafness 68	Deafness, Autosomal Dominant, 68

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

CMTX6	Charcot-Marie-Tooth Disease X-Linked Dominant 6
Cmt6x	X-Linked Charcot-Marie-Tooth Disease Type 6
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6	Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6
Charcot-Marie-Tooth Neuropathy X-Linked 6	Charcot-Marie-Tooth Disease, X-Linked, Type 6

Primary Biliary Cholangitis

Primary Biliary Cirrhosis	Biliary Liver Cirrhosis
Chronic Nonsuppurative Destructive Cholangitis	Familial Primary Biliary Cirrhosis
Pbc	Hanot Syndrome
Cholestatic Cirrhosis	Biliary Cirrhosis Primary
Liver Cirrhosis, Biliary	Hanot'S Cirrhosis
Biliary Cirrhosis	Pericholangiolic Biliary Cirrhosis
Tannhauser-Magendantz Syndrome	Hanot-Rossle Syndrome
Hypertrophic Cirrhosis	Todd Cirrhosis
Hanot Cirrhosis	Charcot Cirrhosis
Mahon-Tannhauser Syndrome	Toxic Cirrhosis
Hypertrophic Biliary Cirrhosis	Monolobular Cirrhosis
Unilobar Cirrhosis	Xanthomatous Biliary Cirrhosis

Severe Congenital Neutropenia 6

Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency

Scn6

Autoimmune Cholangitis

Autoimmune Cholangiopathy

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

Transposition Of The Great Arteries, Dextro-Looped

Transposition Of The Great Arteries	DTGA1
Dextro-Looped Transposition Of The Great Arteries	DTGA
Congenitally Uncorrected Transposition Of The Great Arteries	Congenitally Uncorrected Transposition Of The Great Vessels
D-Tga	Isolated Ventriculoarterial Discordance
Ventriculoarterial Discordance With Atrioventricular Concordance	Dextro-Transposition Of The Great Arteries
Transposition Of The Great Vessels	Great Vessels Transposition
Transposition Of The Great Arteries, Dextro-Looped 1	Arteries, Great, Transposition, Dextro-Looped
Ventriculoarterial Discordance, Isolated	D-Transposition Of The Great Arteries
Complete Transposition	Tga
Tgv	Transposition Of Great Vessels
Transposition Of The Great Arteries Dextro-Looped 1	Dextro-Looped Transposition Of The Great Arteries 1
Discordant Ventriculoarterial Connection	Complete Transposition Of Great Vessels
Great Vessels Complete Transposition	Total Great Vessel Transposition
Transposition Of Great Arteries	Complete Tga - [Transposition Of The Great Arteries]
Tga - [Transposition Of Great Arteries]	Tgv - [Transposition Of Great Vessels]
Transposition Of Great Vessels Nos	Transposed Vessels Nos

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-RS10264	PDHX Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PDHX	VGNC	VGNC:64083
Macaca mulatta	PDHX	VGNC	VGNC:75845
Rattus norvegicus	PDHX	RGD	RGD:1566332
Bos taurus	PDHX	VGNC	VGNC:32695
Canis familiaris	PDHX	VGNC	VGNC:44375
Mus musculus	PDHX	MGD	MGI:1351627