pyruvate dehydrogenase complex component X

Summary
Gene Symbol
  • PDHX
Aliases
  • DLDBP
  • E3BP
  • OPDX
  • PDX1
  • proX
Organism
Homo sapiens (human)
External Links
NCBI Gene
8050
HGNC
21350
KEGG Gene ID
hsa:8050
PubChem
8050
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Acyltransferase
  • Alternative splicing
  • Lipoyl
  • Mitochondrion
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A8C8MSB2
O00330
  • Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex
  • E3-binding protein
  • Lipoyl-containing pyruvate dehydrogenase complex component X
  • proX
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
acetyl-CoA biosynthetic process from pyruvate
GO Hierarchy
Human Protein Atlas
ENSG00000110435

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K13997
Name
dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 89 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050524 maturity-onset diabetes of the young
DOID:0050782 Zollinger-Ellison syndrome
DOID:0050819 obsolete Matthew-Wood syndrome
DOID:0060334 transient neonatal diabetes mellitus
DOID:0070218 familial hyperinsulinemic hypoglycemia 2
DOID:0070219 familial hyperinsulinemic hypoglycemia 1
DOID:0080199 colorectal carcinoma
DOID:0110741 type 1 diabetes mellitus 2
DOID:0110742 type 1 diabetes mellitus 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 46 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000218 High palate
HP:0000243 Trigonocephaly
HP:0000252 Microcephaly
HP:0000286 Epicanthus
HP:0000316 Hypertelorism
HP:0000496 Abnormality of eye movement
HP:0000648 Optic atrophy
HP:0000767 Pectus excavatum
HP:0001249 Intellectual disability
Displaying all 2 entries
Disease ID Disease Name
ORPHA:255182
  • pyruvate dehydrogenase E3-binding protein deficiency
OMIM:245349
  • pyruvate dehydrogenase E3-binding protein deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000701
Gene Name
pyruvate dehydrogenase complex, component X

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Last updated: August 19, 2024