| Type | Description |
|---|---|
| Definition | ELOVL fatty acid elongase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-16 12:20:00 | A dominant ELOVL1 mutation causes a neuro-ichthyotic disorder possibly amenable to treatment with PPAR-modulating drugs. | 30487246 |
| 2019-09-21 11:35:00 | he ELOVL1 p.Ser165Phe mutation is a likely cause of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD). | 29496980 |
| 2015-08-29 10:08:00 | ELOV1 promotes very long-chain fatty acid accumulation X-linked adrenoleukodystrophy and is inhibited by CoA esters of bezafibrate and gemfibrozil. | 25499606 |
| 2014-11-08 12:51:00 | Results suggest that inhibition of atty acid elongase 1 (ELOVL1) may be an underlying mechanism by which Lorenzo's oil exerts its action. | 24489110 |
| 2014-01-18 11:23:00 | down-regulation of ELOVL1 had a comprehensive effect on the synthesis of very long chain ceramides which possibly point to a requirement for ELOVL1 expression for full CerS2-activity. | 23538298 |
| Type | IDs |
|---|---|
| Synonymous | CGI-88, Ssc1 |
| Gene |
UniProtKB-ID:
ELOV1_HUMAN
UniprotKB:
Q9BW60
UniParc:
UPI00001196CE,
UPI0000E0539D
EMBL:
AF336793,
AK298163,
BC000618,
AK222498,
AL139289,
AF151846,
AK001653
Ensembl:
ENSG00000066322
KO:
hsa:64834
|
| Nucleutide sequences |
EMBL-CDS:
AAL71993.1,
BAA91813.1,
AAD34083.1,
AAH00618.1,
BAG60436.1,
BAD96218.1
Gene_ORFName:
CGI-88
Ensembl_TRS:
ENST00000372458,
ENST00000413844,
ENST00000621943
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000416024,
ENSP00000477602,
ENSP00000361536
RefSeq:
NP_001243330.1,
NP_001243328.1,
NP_073732.1,
NP_001243331.1
|
| Others |
UniRef100:
UniRef100_Q9BW60
UniRef90:
UniRef90_Q9BW60
UniRef50:
UniRef50_Q9BW60
UniGene:
Hs.25597
CCDS:
CCDS485.1,
CCDS57987.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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