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Gene: DBT (dihydrolipoamide branched chain transacylase E2) Homo sapiens
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Symbol: DBT
Name: dihydrolipoamide branched chain transacylase E2
Description: Exhibits ubiquitin protein ligase binding activity. Predicted to be involved in branched-chain amino acid catabolic process. Localizes to mitochondrial nucleoid. Implicated in maple syrup urine disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 52 kDa mitochondrial autoantigen of primary biliary cirrhosis; BCATE2; BCKAD E2 subunit; BCKAD-E2; BCKADE2; BCOADC-E2; branched chain 2-oxo-acid dehydrogenase complex component E2; branched chain acyltransferase, E2 component; branched-chain alpha-keto acid dehydrogenase complex component E2; dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; dihydrolipoyl transacylase; dihydrolipoyllysine-residue (2-methylpropanoyl)transferase; E2; E2 component of branched chain alpha-keto acid dehydrogenase complex; E2B; lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial; lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex; MGC9061; mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b)
Orthologs:
Mus musculus (house mouse) : Dbt (dihydrolipoamide branched chain transacylase E2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Dbt (dihydrolipoamide branched chain transacylase E2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Dbt (dihydrolipoamide branched chain transacylase E2)
Pan paniscus (bonobo/pygmy chimpanzee) : DBT (dihydrolipoamide branched chain transacylase E2)
Canis lupus familiaris (dog) : DBT (dihydrolipoamide branched chain transacylase E2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Dbt (dihydrolipoamide branched chain transacylase E2)
Sus scrofa (pig) : DBT (dihydrolipoamide branched chain transacylase E2)
Chlorocebus sabaeus (African green monkey) : DBT (dihydrolipoamide branched chain transacylase E2)
Heterocephalus glaber (naked mole-rat) : Dbt (dihydrolipoamide branched chain transacylase E2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1100,186,919 - 100,249,834 (-)EnsemblGRCh38hg38GRCh38
GRCh381100,186,919 - 100,249,864 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371100,652,478 - 100,715,409 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361100,425,066 - 100,487,997 (-)NCBINCBI36hg18NCBI36
Build 341100,371,756 - 100,427,411NCBI
Celera198,909,336 - 98,972,208 (-)NCBI
Cytogenetic Map1p21.2NCBI
HuRef198,775,207 - 98,838,837 (-)NCBIHuRef
CHM1_11100,768,800 - 100,831,605 (-)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
 
More on DBT
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 68592
Created: 2001-07-11
Species: Homo sapiens
Last Modified: 2020-05-05
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.