Gene

pdhb

ID
ZDB-GENE-040426-2173
Name
pyruvate dehydrogenase E1 subunit beta
Symbol
pdhb Nomenclature History
Previous Names
  • nir (1)
  • noir (1)
  • wu:fc76a05
  • zgc:64062 (1)
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Exhibits pyruvate dehydrogenase activity. Involved in pigmentation. Predicted to localize to mitochondrial pyruvate dehydrogenase complex. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Is expressed in alar plate midbrain region; musculature system; optic tectum; optic vesicle; and pronephric duct. Orthologous to human PDHB (pyruvate dehydrogenase E1 subunit beta).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
6 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
10 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pdhb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
pyruvate decarboxylase deficiency Alliance Pyruvate dehydrogenase E1-beta deficiency 614111
Associated With pdhb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR005475 Transketolase-like, pyrimidine-binding domain
Domain IPR033248 Transketolase, C-terminal domain
Family IPR027110 Pyruvate dehydrogenase E1 component subunit beta
Homologous_superfamily IPR009014 Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
Homologous_superfamily IPR029061 Thiamin diphosphate-binding fold
Domain Details Per Protein
Protein Length Pyruvate dehydrogenase E1 component subunit beta Thiamin diphosphate-binding fold Transketolase, C-terminal domain Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II Transketolase-like, pyrimidine-binding domain
UniProtKB:Q7T368 359
UniProtKB:Q1LVS0 203
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-pdhb monoclonal IgG1 , k Mouse
  • WB
Abcam plc
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations