| Type | Description |
|---|---|
| Definition | isovaleryl-CoA dehydrogenase |
| Date | Results | Publications |
|---|---|---|
| 2017-05-20 11:55:00 | Nine novel isovaleryl-CoA dehydrogenase mutations have been found in a Spanish cohort with isovaleric acidemia. | 27904153 |
| 2016-02-20 10:09:00 | Our results have illustrated the heterogeneous mutation spectrum and clinical presentation of IVA in the Japanese patients | 26018748 |
| 2015-08-22 10:42:00 | kinetics and ligand binding of isovaleryl-CoA dehydrogenase | 25450250 |
| 2013-06-08 13:05:00 | study reports the first Saudi isovaleric acidemia patients from a consanguineous family with a novel transversion (p.G362V) and briefly discuss likely phenotype-genotype correlation of the disease in the Saudi population | 23063737 |
| 2013-04-27 11:51:00 | A heterogeneous mutation spectrum in the IVD gene was identified in isovaleric acidemia patients in the United Arab Emirates. | 22960500 |
| Type | IDs |
|---|---|
| Synonymous | ACAD2 |
| Gene |
UniProtKB-ID:
IVD_HUMAN,
A0A0A0MT83_HUMAN,
A0A0S2Z4K7_HUMAN
UniprotKB:
P26440,
A0A0A0MT83,
A0A0S2Z4K7
UniParc:
UPI0002A7BC58,
UPI0000D4AF3D,
UPI00005A7AD7,
UPI000012DA8A
EMBL:
AF191216,
AF038318,
BT007145,
CH471125,
AC013356,
AF191215,
BC017202,
AF191218,
KF459687,
AK315296,
KU178151,
M34192,
AF191217,
AK122922,
KU178150,
AF191214
Ensembl:
ENSG00000128928
KO:
hsa:3712
|
| Nucleutide sequences |
EMBL-CDS:
AAA52711.1,
AAP35809.1,
EAW92414.1,
BAG37702.1,
BAG53799.1,
AAH17202.1,
EAW92415.1,
AAF20182.1,
AAB92584.1,
EAW92413.1,
ALQ33608.1,
ALQ33609.1
Ensembl_TRS:
ENST00000650656,
ENST00000651168,
ENST00000487418,
ENST00000479013
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000499074,
ENSP00000498731,
ENSP00000418397,
ENSP00000417990
RefSeq:
XP_016877647.1,
XP_016877639.1,
XP_016877642.1,
XP_016877638.1,
NP_001341529.2,
NP_001152980.2,
NP_001341526.1,
NP_002216.3,
XP_016877646.1,
XP_006720558.1,
XP_016877643.1,
NP_001341527.2,
NP_001341528.2,
XP_016877644.1,
NP_001341530.2
|
| Others |
UniRef100:
UniRef100_P26440,
UniRef100_P26440-2
UniRef90:
UniRef90_P26440,
UniRef90_P26440-2
UniRef50:
UniRef50_P26440-2,
UniRef50_P26440
UniGene:
Hs.513646
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员