PDHX

GENE INFORMATION

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Gene name

PDHX (HGNC Symbol)

Synonyms

DLDBP, E3BP, OPDX, PDX1, proX

Description

pyruvate dehydrogenase complex, component X (HGNC Symbol)

Entrez gene 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]

Chromosome

11 (Chromosome progress)

Cytoband

p13

Chromosome location (bp)

34937376 - 35042138

Ensembl

ENSG00000110435 (version 73.37)

Entrez gene

8050

UniProt

O00330 (UniProt - Evidence at protein level)

neXtProt

NX_O00330

Antibodypedia

PDHX antibodies
 

PROTEIN VIEW

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PDHX-001
 
PDHX-002
 
PDHX-003
 
PDHX-004
 
PDHX-006
 
PDHX-008
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PDHX-001 ENSP00000227868
ENST00000227868
O00330
Show all »
Show » Show » 501 54.1 No 0
PDHX-002 ENSP00000389404
ENST00000448838
E9PB14
Show all »
Show » Show » 486 51.5 No 0
PDHX-003 ENSP00000431281
ENST00000533550
E9PLU0
Show all »
Show » 151 16.2 No 0
PDHX-004 ENSP00000415695
ENST00000430469
O00330
Show all »
Show » Show » 274 29.9 No 0
PDHX-006 ENSP00000433204
ENST00000526309
Show » Show » 189 20.6 No 0
PDHX-008 ENSP00000432277
ENST00000533262
E9PRI6
Show all »
Show » 182 19.7 No 0