| Type | Description |
|---|---|
| Definition | dihydrolipoamide branched chain transacylase E2 |
| Date | Results | Publications |
|---|---|---|
| 2016-04-02 11:18:00 | The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved. | 24268812 |
| 2013-04-20 10:29:00 | Deletion in DBT gene is associated with maple syrup urine disease. | 23313820 |
| 2011-01-01 10:10:00 | 4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein | 20570198 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-01-21 00:00:00 | presence of the interdomain linker restricts the motional freedom of the hbSBD more significantly than hbLBD, and that the linker region likely exists as a soft rod rather than a flexible string in solution. | 16861235 |
| Type | IDs |
|---|---|
| Synonymous | BCATE2, BCKAD-E2, BCKADE2, BCOADC-E2, E2, E2B |
| Gene |
UniProtKB-ID:
ODB2_HUMAN
UniprotKB:
P11182
UniParc:
UPI0000130BC1
EMBL:
M19301,
CH471097,
M27093,
BC016675,
AK313191,
J03208,
X68104,
AL445928,
BT007372,
X66785
Ensembl:
ENSG00000137992
KO:
hsa:1629
|
| Nucleutide sequences |
EMBL-CDS:
AAA35589.1,
CAA48225.1,
EAW72963.1,
BAG36008.1,
AAA64512.1,
AAA59200.1,
AAH16675.1,
AAP36036.1,
CAA47285.1
Ensembl_TRS:
ENST00000370132
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359151
RefSeq:
XP_016855958.1,
XP_016855957.1,
XP_005270602.1,
NP_001909.4
|
| Others |
UniRef100:
UniRef100_P11182
UniRef90:
UniRef90_P11182
UniRef50:
UniRef50_P11182
UniGene:
Hs.709187
CCDS:
CCDS767.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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