Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | DBT | contributors: - updated : 20-04-2007 |
HGNC name | dihydrolipoamide branched chain transacylase E2 |
HGNC id | 2698 |
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Corresponding disease |
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Location | 1p31 Physical location : 100.652.478 - 100.715.409 | ||
Synonym name | |||
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Synonym symbol(s) | BCKAD, E2, E2B, BCATE2, MGC9061 | ||
EC.number | 2.3.1.168 |
DNA |
TYPE | functioning gene |
STRUCTURE | 55.00 kb 11 Exon(s) |
Genomic sequence alignment details |
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10 Kb 5' upstream gene genomic sequence study |
motif | repetitive sequence ALU long interspersed repetitive elements other |
text structure | repeated sequence,Alu,MER,,Line-1,LIMB |
MAPPING | cloned | Y | linked | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | widely |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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HOMOLOGY |
interspecies | ortholog to murine Dbt (85 pc) |
Homologene |
FAMILY | 2-oxoacid dehydrogenase family |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria,inner |
basic FUNCTION |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism | aminoacid |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule | cofactor, |
covalently bound biotin lipoyl cofactor and CoA |
protein |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | MSUD2 |
related resource | MITOP database |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |