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Gene: Bckdhb (branched chain ketoacid dehydrogenase E1, beta polypeptide) Mus musculus
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Symbol: Bckdhb
Name: branched chain ketoacid dehydrogenase E1, beta polypeptide
Description: Exhibits alpha-ketoacid dehydrogenase activity. Predicted to be involved in branched-chain amino acid catabolic process and response to nutrient. Localizes to the mitochondrion. Human ortholog(s) of this gene implicated in maple syrup urine disease. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Orthologous to human BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; BCKDE1B; BCKDH E1-beta; branched-chain alpha-keto acid dehydrogenase E1 component beta chain
Orthologs:
Related Pseudogenes: Gm16353  
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm38 Ensembl983,925,145 - 84,124,240 (+)Ensembl
GRCm38983,925,111 - 84,124,240 (+)NCBIGRCm38GRCm38mm10GRCm38
MGSCv37983,842,388 - 84,017,847 (+)NCBIGRCm37mm9NCBIm37
MGSCv36983,745,499 - 83,920,958 (+)NCBImm8
Celera981,044,884 - 81,213,851 (+)NCBICelera
Cytogenetic Map9 E2NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
 
More on Bckdhb
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736924
Created: 2004-02-06
Species: Mus musculus
Last Modified: 2019-11-27
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.