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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PDHX Gene

protein-coding GIFtS: 64
GCID: GC11P034894

pyruvate dehydrogenase complex, component X

Explore 20 diseases affiliated with
PDHX via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Pyruvate Dehydrogenase Complex, Component X¹ ²		Dihydrolipoamide Dehydrogenase-Binding Protein Of Pyruvate Dehydrogenase Complex² ³
PDX1¹ ² ³ ⁵		Lipoyl-Containing Pyruvate Dehydrogenase Complex Component X² ³
E3BP¹ ² ³		Pyruvate Dehydrogenase Complex, E3-Binding Protein Subunit²
ProX¹		Pyruvate Dehydrogenase Complex, Lipoyl-Containing Component X²
DLDBP¹ ²		Pyruvate Dehydrogenase Protein X Component, Mitochondrial²
OPDX¹ ²		E3-Binding Protein³

External Ids:	HGNC: 21350¹	Entrez Gene: 8050²	Ensembl: ENSG00000110435⁷	OMIM: 608769⁵	UniProtKB: O00330³

Export aliases for PDHX gene to outside databases

Previous GC identifers: GC11P034977 GC11P034902 GC11P034636

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PDHX:

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)

UniProtKB/Swiss-Prot: ODPX_HUMAN, O00330

Function: Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core

of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex

Gene Wiki entry for PDHX (E3 binding protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PDHX gene promoter:
ER-alpha GATA-3 Brachyury CUTL1 GATA-1 GATA-2 RORalpha1 AREB6 IRF-2 IRF-7A
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PDHX promoter sequence

Search SABiosciences Chromatin IP Primers for PDHX

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDHX

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p13 Ensembl cytogenetic band: 11p13 HGNC cytogenetic band: 11p13

PDHX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDHX gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P034894: view genomic region (about GC identifiers)

Start:	34,937,376 bp from pter	End:	35,042,138 bp from pter
Size:	104,763 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ODPX_HUMAN, O00330 (See protein sequence)

Recommended Name: Pyruvate dehydrogenase protein X component, mitochondrial precursor

Size: 501 amino acids; 54122 Da

Subunit: Part of the inner core of the multimeric pyruvate dehydrogenase complex that is composed of about 48 DLAT and

12 PDHX molecules. This core binds multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase

(DLAT, E2) and lipoamide dehydrogenase (DLD, E3)

Subcellular location: Mitochondrion matrix

4 PDB 3D structures from and Proteopedia for PDHX:

1ZY8 (3D)

2DNC (3D)

2F5Z (3D)

2F60 (3D)

Secondary accessions: B4DW62 D3DR11 E9PBP7 O60221 Q96FV8 Q99783

Alternative splicing: 2 isoforms: O00330-1 O00330-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDHX: NX_O00330

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O00330

PDHX Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001128496.1 NP_001159630.1 NP_003468.2

ENSEMBL proteins:

ENSP00000431281 ENSP00000389404 ENSP00000227868 ENSP00000415695 ENSP00000432277

ENSP00000433204

Reactome Protein details: O00330
Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for PDHX
	Novus Biologicals PDHX Protein Novus Biologicals PDHX Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PDHX

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005759	mitochondrial matrix	TAS	--

PDHX for ontologies About GeneDecksing

PDHX Antibody Products:

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	Uscn Antibodies for PDHX
	ThermoFisher Antibody for PDHX

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	Uscn ELISAs and CLIAs for PDHX

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PDHX for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR004167 E3-bd

IPR000089 Biotin_lipoyl

IPR003016 2-oxoA_DH_lipoyl-BS

IPR001078 2-oxoacid_DH_actylTfrase

IPR023213 CAT-like_dom

Graphical View of Domain Structure for InterPro Entry O00330

ProtoNet protein and cluster: O00330

4 Blocks protein families:

IPB000089 Biotin/lipoyl attachment

IPB001078 Catalytic domain of components of various dehydrogenase complexes

IPB003016 2-oxo acid dehydrogenase

IPB004167 E3 binding domain

UniProtKB/Swiss-Prot: ODPX_HUMAN, O00330

Similarity: Belongs to the 2-oxoacid dehydrogenase family

Similarity: Contains 1 lipoyl-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ODPX_HUMAN, O00330

Function: Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core

of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex

miRNA Products:		OriGene 3'-UTR Clone (see all 3): PDHX Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PDHX
		8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate PDHX (see all 19):
		hsa-miR-513a-5p hsa-miR-128 hsa-miR-29a hsa-miR-29c hsa-miR-1297 hsa-miR-3119 hsa-miR-26b hsa-miR-4257

		SwitchGear 3'UTR luciferase reporter plasmid: PDHX 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PDHX (see all 7) OriGene shRNA RFP: PDHX OriGene siRNA: PDHX
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PDHX

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PDHX

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PDHX (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PDHX (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): PDHX (NM_003477)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDHX
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDHX

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PDHX
		Search LifeMap BioReagents cell lines for PDHX

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDHX

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016746	transferase activity, transferring acyl groups	IEA	--

PDHX for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for PDHX:

Increased homologous recombina

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Pyruvate metabolism

Pyruvate metabolism

1.00

Regulation of pyruvate dehydrogenase (PDH) complex

0.60

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

TCA Cycle

TCA Cycle

1.00

Pyruvate metabolism and Citric Acid (TCA) cycle

0.64

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

The citric acid (TCA) cycle and respiratory electron transport

0.72

Glycolysis and gluconeogenesis (short map)

Glycolysis and Gluconeogenesis

0.60

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for PDHX

	Glycolysis and Gluconeogenesis
	TCA Cycle

5 Reactome Pathways for PDHX

	Pyruvate metabolism
	Pyruvate metabolism and Citric Acid (TCA) cycle
	Metabolism
	The citric acid (TCA) cycle and respiratory electron transport
	Regulation of pyruvate dehydrogenase (PDH) complex

1 Kegg Pathway (Kegg details for PDHX):

Metabolic pathways

PDHX for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PDHX

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/30 Interacting proteins for PDHX (O00330^{2, 3} ENSP00000227868⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 30)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DLAT	P10515³, ENSP00000280346⁴	I2D: score=3 STRING: ENSP00000280346
PDHB	P11177³, ENSP00000307241⁴	I2D: score=3 STRING: ENSP00000307241
DLD	P09622³, ENSP00000205402⁴	I2D: score=3 STRING: ENSP00000205402
PDK2	Q15119³, ENSP00000007708⁴	I2D: score=3 STRING: ENSP00000007708
EP300	Q09472³, ENSP00000263253⁴	I2D: score=2 STRING: ENSP00000263253

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006090	pyruvate metabolic process	TAS	--
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

PDHX for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PDHX for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PDHX

1 HMDB Compound for PDHX About this table

Compound	Synonyms	CAS #	PubMed Ids
Lipoic acid	(+)-alpha-Lipoate (see all 92)	1077-28-7	--

7 Novoseek chemical compound relationships for PDHX gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dihydrolipoamide	86.3	14	16442803 (2), 10094940 (2), 9242632 (2), 10448433 (1) (see all 6)
pyruvate	78	35	9242632 (3), 16442803 (2), 16843025 (2), 15303005 (2) (see all 20)
2-oxo acid	77	5	10385636 (1), 10094940 (1)
alpha lipoic acid	57.3	4	10094940 (1)
alpha-ketoglutarate	44.8	3	10385636 (1), 10094940 (1)
glucose	25.4	13	19833727 (4), 16505238 (1)
serine	0	1	9242632 (1)

Search CenterWatch for drugs/clinical trials and news about PDHX / ODPX

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PDHX gene (3 alternative transcripts):

NM_001135024.1 NM_001166158.1 NM_003477.2

Unigene Cluster for PDHX:

Pyruvate dehydrogenase complex, component X

Hs.502315 [show with all ESTs]

Unigene Representative Sequence: NM_003477

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000533550 ENST00000448838(uc001mvt.3 uc010rep.2 uc010req.2)

ENST00000227868 ENST00000430469 ENST00000533262 ENST00000526309 ENST00000532159

ENST00000477173

miRNA Products:		OriGene 3'-UTR Clone (see all 3): PDHX Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PDHX
		8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate PDHX (see all 19):
		hsa-miR-513a-5p hsa-miR-128 hsa-miR-29a hsa-miR-29c hsa-miR-1297 hsa-miR-3119 hsa-miR-26b hsa-miR-4257

		SwitchGear 3'UTR luciferase reporter plasmid: PDHX 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PDHX (see all 7) OriGene shRNA RFP: PDHX OriGene siRNA: PDHX
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PDHX

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PDHX (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PDHX (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PDHX
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PDHX

Additional cDNA sequence:

AF001437.1 AF052166.1 AK057123.1 AK301384.1 AK312463.1 AY952887.1 BC010389.1 BX648910.1

U79296.1 U82328.1 Y13145.1

16 DOTS entries:

DT.100730804 DT.456268 DT.86855014 DT.100796281 DT.91862608 DT.453541 DT.92434573 DT.100796288

DT.102831508 DT.120698125 DT.100796282 DT.120698132 DT.121036500 DT.100796286 DT.40312513 DT.91983808

24/211 AceView cDNA sequences (see all 211):

AL709150 H22213 BG392023 AA724417 N48320 CB133933 BQ637877 BQ024032

F10884 U79296 F13285 AL119824 AU125458 BX119658 AI051425 BF351659

CB243701 CB145699 BG547083 CR597392 BM789687 BX488465 BQ435877 BM773308

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for PDHX About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b	^	11a	·	11b	·	11c
SP1:																			-						-		-
SP2:									-		-		-		-		-		-		-				-		-
SP3:																			-						-
SP4:

ECgene alternative splicing isoforms for PDHX

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PDHX expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATGAAAAGA

About this image
See PDHX Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PDHX

SOURCE GeneReport for Unigene cluster: Hs.502315

SABiosciences Expression via Pathway-Focused PCR Arrays including PDHX:

Homeobox (HOX) Genes in human mouse rat

Glucose Metabolism in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PDHX Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PDHX

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDHX

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDHX gene from 8/30 species (see all 30) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PDHX¹	pyruvate dehydrogenase complex, component X	73.08(n) 72.67(a)		423154 NM_001031187.1 NP_001026358.1
lizard (Anolis carolinensis)	Reptilia	--	--	80(a)	1 ↔ 1	3(189308068-189332307)
African clawed frog (Xenopus laevis)	Amphibia	AW641973.1²	--	77.51(n)		AW641973.1
zebrafish (Danio rerio)	Actinopterygii	zgc66110²	hypothetical protein MGC66110	71.28(n)		393532 BC056571.1
honey bee (Apis mellifera)	Insecta	--	--	30(a)	1 ↔ 1	Group6.33(234753-237771)
worm (Caenorhabditis elegans)	Secernentea	C30H6.7⁶	Protein C30H6.7, isoform a	36(a)	1 ↔ 1	IV(17380596-17382193)
thale cress (Arabidopsis thaliana)	eudicotyledons	LTA3⁶ LTA2⁶ (see all 3)	dihydrolipoyllysine-residue acetyltransferase comp... 2-oxoacid dehydrogenases acyltransferase family pr... (see all 3)	25(a) 25(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	3(19360206-19366387) 3(9460560-9462787)
rice (Oryza sativa)	Liliopsida	AK072554.1²	--	70.59(n)		AK072554.1

ENSEMBL Gene Tree for PDHX (if available)
TreeFam Gene Tree for PDHX (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PDHX gene

DBT² DLAT²

1 SIMAP similar gene for PDHX using alignment to 5 protein entries: ODPX_HUMAN (see all proteins):

DLAT

PDHX for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113309941^1,2	C	pathogenic	66545339(+)	`CCCTAC/G/TAGGCC`	7	Q E *	mis¹ stg¹ int¹		1		CSA	2
rs78859186^1,2	F,	--	34634296(+)	`GTTCTA/GGGGGA`	3	--	us2k¹		1		WA	118
rs984688^1,2	A	--	34634358(-)	`tgagcA/Gcctac`	3	--	us2k¹		0	--	--	--	--
rs12281914^1,2	H,	--	34634711(+)	`AAAAGA/CAGCTG`	3	--	us2k¹ tfbs³		4		NS EA WA	390
rs12361884^1,2	H	--	34635129(+)	`GGCCAT/CGTTTG`	3	--	us2k¹ tfbs³		4		NS EA	370
rs72930468^1,2	C,F,	--	34635298(+)	`TCTCTC/ATCTCA`	3	--	us2k¹		1		NA	120
rs79438405^1,2	C,F,	--	34635621(+)	`TGTAGA/GAGGCG`	3	--	us2k¹		1		NA	120
rs35924042^1,2	C,	--	34636159(+)	`TAAACA/C/G/T CCCGG`	9	--	ut5¹		1		NA	2
rs16926448^1,2		--	34636176(+)	`ACCCTG/ACGCCC`	3	--	ut5¹		7		MN EA NA WA	738
rs1887229^1,2	C,	--	34637129(-)	`GAGGAG/AAGTTT`	3	--	int¹ trp³		2		NA	4

HapMap Linkage Disequilibrium report for PDHX (34937376 - 35042138 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for PDHX
5 CNVs: 9181 75594 85719 2917 85718
Human Gene Mutation Database (HGMD): PDHX

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PDHX

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PDHX for disorders           About GeneDecksing

OMIM gene information: 608769
OMIM disorders: 245349
UniProtKB/Swiss-Prot: ODPX_HUMAN, O00330

Defects in PDHX are the cause of pyruvate dehydrogenase E3-binding protein deficiency (PDHXD) [MIM:245349]

20 diseases for PDHX: About MalaCards

primary biliary cirrhosis lactic acidosis liver disease pyruvate decarboxylase deficiency

ulnar neuropathy systemic lupus erythematosus lupus erythematosus leigh disease

diabetes mellitus protein s deficiency insulinoma gastritis

breast adenocarcinoma neuropathy adenocarcinoma prostate cancer

adenoma obesity prostatitis pancreatitis

4 diseases from the University of Copenhagen DISEASES database for PDHX:

Pyruvate decarboxylase deficiency Primary biliary cirrhosis Leigh disease Lactic acidosis

6 Novoseek disease relationships for PDHX gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
biliary cirrhosis primary	67	8	10385636 (2), 10094940 (2), 10385634 (1), 11050037 (1) (see all 5)
acidosis lactic	57.5	2	9399911 (1), 15303005 (1)
leigh syndrome	54.7	1	16566017 (1)
metaplasia	37.9	6	14631368 (4), 16751181 (2)
liver diseases	19.7	1	10094940 (1)
tumors	3.42	2	15166675 (1)

Genatlas disease: PDHX

severe developmental delay and mental retardation

Human Genome Epidemiology (HuGE) Navigator: PDHX (3 documents)

Export disorders for PDHX gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PDHX gene, integrated from 9 sources (see all 88):
(articles sorted by number of sources associating them with PDHX)

Utopia: connect your pdf to the dynamic
world of online information

Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. (PubMed id 9467010)^{1, 2, 3, 9} Ling M.... Robinson B.H. (1998)
How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex. (PubMed id 16263718)^{1, 2, 9} Ciszak E.M....Patel M.S. (2006)
Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex. (PubMed id 16442803)^{1, 2, 9} Brautigam C.A....Chuang D.T. (2006)
Dihydrolipoamide dehydrogenase-binding protein of the human pyruvate dehydrogenase complex. DNA-derived amino acid sequence, expression, and reconstitution of the pyruvate dehydrogenase complex. (PubMed id 9242632)^{1, 2, 9} Harris R.A.... Popov K.M. (1997)
Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components. (PubMed id 14638692)^{1, 2, 9} Hiromasa Y....Roche T.E. (2004)
Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. (PubMed id 9399911)^{1, 2, 9} Aral B.... Marsac C. (1997)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Quantitative proteomics: the copy number of pyruvate dehydrogenase is more than 10(2)-fold lower than that of complex III in human mitochondria. (PubMed id 12372595)^{1, 3} Murray J....Capaldi R.A. (2002)
Large-scale concatenation cDNA sequencing. (PubMed id 9110174)^{1, 2} Yu W.... Gibbs R.A. (1997)
Leigh's disease due to a new mutation in the PDHX gene. (PubMed id 16566017)^{1, 9} Schiff M....Ogier de Baulny H. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 8050	HGNC: 21350	AceView: PDHX	Ensembl:ENSG00000110435	euGenes: HUgn8050
ECgene: PDHX	Kegg: 8050	H-InvDB: PDHX

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PDHX	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PDHX gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for PDHX gene:
Search GeneIP for patents involving PDHX

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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pyruvate dehydrogenase complex, component X

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PDHX Gene

pyruvate dehydrogenase complex, component X

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