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 have alpha-ketoacid dehydrogenase activity. Predicted to be involved in branched-chain amino acid catabolic process and response to nutrient. Predicted to localize to mitochondrial alpha-ketoglutarate dehydrogenase complex. 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
Thisse Expression Data
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 391
Transcripts
Genome Browsers
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