| Type | Description |
|---|---|
| Definition | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase |
| Date | Results | Publications |
|---|---|---|
| 2014-01-25 10:06:00 | Mistargeting of peroxisomal EHHADH disrupts mitochondrial metabolism and leads to renal Fanconi's syndrome; this indicates a central role of mitochondria in proximal tubular function. | 24401050 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2009-04-01 21:32:00 | Observational study of gene-disease association. (HuGE Navigator) | 19240061 |
| 2008-09-24 21:30:00 | Observational study of gene-disease association. (HuGE Navigator) | 18660489 |
| Type | IDs |
|---|---|
| Synonymous | ECHD, FRTS3, L-PBE, LBFP, LBP, PBFE |
| Gene |
UniProtKB-ID:
ECHP_HUMAN
UniprotKB:
Q08426
UniParc:
UPI00017A802D,
UPI000013C959
EMBL:
CH471052,
AJ427347,
AJ427346,
BC110460,
AJ427345,
AJ427350,
AJ427351,
L07077,
AK291798,
BC038948,
AJ427348,
AC128680,
AK223460,
AK301521,
S50245,
AJ427349,
AC007934
Ensembl:
ENSG00000113790
KO:
hsa:1962
|
| Nucleutide sequences |
EMBL-CDS:
EAW78230.1,
AAI10461.1,
BAD97180.1,
AAA53289.1,
AAH38948.1,
AAB19482.1,
EAW78229.1,
BAG63025.1,
CAD22483.1,
BAF84487.1
Ensembl_TRS:
ENST00000231887,
ENST00000456310
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000231887,
ENSP00000387746
RefSeq:
NP_001957.2,
XP_006713588.1,
NP_001159887.1
|
| Others |
UniRef100:
UniRef100_Q08426
UniRef90:
UniRef90_Q08426
UniRef50:
UniRef50_Q08426
UniGene:
Hs.429879
CCDS:
CCDS33901.1,
CCDS54694.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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