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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Enables pyruvate dehydrogenase activity. Acts upstream of or within pigmentation. Predicted to be part of pyruvate dehydrogenase complex. Is expressed in alar plate midbrain region; musculature system; optic tectum; optic vesicle; and pronephric duct. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:64062 (6 images)
IMAGE:6895600 (1 image)

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, mitochondrial-type
Homologous_superfamily	IPR009014	Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
Homologous_superfamily	IPR029061	Thiamin diphosphate-binding fold