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Gene: BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) Homo sapiens
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Symbol: BCKDHB
Name: branched chain keto acid dehydrogenase E1 subunit beta
Description: Contributes to alpha-ketoacid dehydrogenase activity. Involved in branched-chain amino acid catabolic process. Localizes to mitochondrial alpha-ketoglutarate dehydrogenase complex and nucleolus. Implicated in maple syrup urine disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-oxoisovalerate dehydrogenase beta subunit; 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; BCKDE1B; BCKDH E1-beta; branched chain alpha-ketoacid dehydrogenase E1-beta subunit; branched chain keto acid dehydrogenase E1, beta polypeptide; branched-chain alpha-keto acid dehydrogenase E1 component beta chain; dJ279A18.1; E1B; E1b-beta subunit of the branched-chain complex; FLJ17880; testis secretory sperm-binding protein Li 240mP
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl680,106,647 - 80,346,270 (+)EnsemblGRCh38hg38GRCh38
GRCh38680,106,610 - 80,469,088 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37680,816,344 - 81,055,987 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36680,873,083 - 81,112,706 (+)NCBINCBI36hg18NCBI36
Build 34680,873,082 - 81,112,706NCBI
Celera681,237,906 - 81,477,561 (+)NCBI
Cytogenetic Map6q14.1NCBI
HuRef678,039,157 - 78,278,814 (+)NCBIHuRef
CHM1_1680,913,773 - 81,153,760 (+)NCBICHM1_1
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
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on BCKDHB
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1351460
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-08-04
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.