PDHX: Pyruvate Dehydrogenase Complex Component X
Essential subunit of the pyruvate dehydrogenase complex linking glycolysis to the TCA cycle
Gene Information Card
| Symbol | PDHX |
|---|---|
| Full Name | Pyruvate Dehydrogenase Complex Component X |
| Gene Type | Protein coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 8050 ncbi.nlm.nih.gov/gene/8050 |
| Ensembl ID | ENSG00000110427 |
| UniProt ID | O00330 |
| OMIM ID | 608769 |
| HGNC ID | 8807 |
| Aliases | PDX1, E3BP, ODPX |
Description
PDHX encodes the E3-binding protein (E3BP) component of the mitochondrial pyruvate dehydrogenase complex (PDC). This protein is essential for anchoring the E3 (dihydrolipoamide dehydrogenase) subunit to the E2 core, enabling the conversion of pyruvate to acetyl-CoA. Mutations in PDHX cause pyruvate dehydrogenase E3-binding protein deficiency, leading to metabolic acidosis and neurological impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyruvate dehydrogenase E3-binding protein deficiency | Loss-of-function mutations impair PDC activity, reducing acetyl-CoA production and causing lactic acidosis | ClinVar, OMIM |
| Leigh syndrome | PDC deficiency due to PDHX mutations leads to neurodegeneration and characteristic brain lesions | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 18.3 | High |
| Skeletal Muscle | 15.7 | High |
| Brain | 9.8 | Medium |
| Kidney | 11.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocyte line |
| K562 | 8.5 | Myelogenous leukemia line |
| HeLa | 10.3 | Cervical carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1060C>T (p.Arg354*) | Nonsense | Rare | Premature stop, loss of E3BP function |
| c.133G>A (p.Gly45Arg) | Missense | Rare | Impaired protein folding and assembly |
Mutation functional classification
Loss of Function (LOF)
Most PDHX mutations are loss-of-function, reducing PDC activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; PDHX deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • pyruvate dehydrogenase complex | • mitochondrial matrix |
| • acetyl-CoA biosynthetic process | • dihydrolipoamide dehydrogenase binding |
Pathways
• Pyruvate metabolism
• TCA cycle
• Glycolysis (pyruvate to acetyl-CoA)
Protein Summary
The PDHX protein (E3BP) is a 50 kDa mitochondrial protein that binds the E3 subunit to the E2 core of the pyruvate dehydrogenase complex. It contains a lipoyl domain and a catalytic domain, essential for complex integrity and function. Deficiency leads to metabolic crisis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDHX Knockout HEK293 Cell Line | EDJ-KQ2202 | Human | 8050 | Details Get a Quote |
| PDHX Knockout A-549 Cell Line | EDJ-KQ21138 | Human | 8050 | Details Get a Quote |
| PDHX Knockout HCT 116 Cell Line | EDJ-KQ22447 | Human | 8050 | Details Get a Quote |
| PDHX Knockout HeLa Cell Line | EDJ-KQ22448 | Human | 8050 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
