Gene

bckdhb

ID

ZDB-GENE-030124-2

Name

branched chain keto acid dehydrogenase E1 subunit beta

Symbol

bckdhb Nomenclature History

Previous Names

zgc:158777

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Description

Predicted to enable 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. Predicted to be involved in branched-chain amino acid catabolic process and response to nutrient. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7155092 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With bckdhb Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Maple syrup urine disease, type Ib	620698

Associated With bckdhb 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
Homologous_superfamily	IPR009014	Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
Homologous_superfamily	IPR029061	Thiamin diphosphate-binding fold

Domain Details Per Protein

Protein	Length	Thiamin diphosphate-binding fold	Transketolase, C-terminal domain	Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II	Transketolase-like, pyrimidine-binding domain
UniProtKB:A1L2C0 InterPro	391

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	bckdhb-201 (1) Ensembl	Ensembl	1,509 nt	Select Tool ZFIN BLAST
mRNA	bckdhb-202 (1) Ensembl	Ensembl	209 nt	Select Tool ZFIN BLAST
mRNA	bckdhb-203 (1) Ensembl	Ensembl	2,341 nt	Select Tool ZFIN BLAST
mRNA	bckdhb-204 (1) Ensembl	Ensembl	1,956 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations