PDHX - pyruvate dehydrogenase complex component X Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8050

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16263718	GOA
contributes to pyruvate dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	9242632	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in acetyl-CoA biosynthetic process from pyruvate	IDA IDA: Inferred from direct assay	24534072	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of pyruvate dehydrogenase complex	IDA IDA: Inferred from direct assay	9242632	GOA
part of pyruvate dehydrogenase complex	IPI IPI: Inferred from physical interaction	19240034	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

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

PDHX Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PDHX	O00330	DLD	Homo sapiens	P09622	Y2H Array	32296183
Intra	PDHX	O00330	DLD	Homo sapiens	P09622	ITC	16442803
Intra	PDHX	O00330	DLD	Homo sapiens	P09622	Y2H Prey Pooling	32296183
Intra	PDHX	O00330	DLD	Homo sapiens	P09622	X-Ray Diffraction	16442803
Intra	PDHX	O00330	DLD	Homo sapiens	P09622	Validated Y2H	32296183
Intra	PDHX	O00330	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
Intra	PDHX	O00330	CIDEB	Homo sapiens	Q9UHD4	Validated Y2H	32296183
Intra	PDHX	O00330	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183
Intra	PDHX	O00330	AGTRAP	Homo sapiens	Q6RW13	Validated Y2H	25416956
Intra	PDHX	O00330	AGTRAP	Homo sapiens	Q6RW13	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10264	PDHX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21404	Pdhx Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27923	Pdhx Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PDHX	NCBI