| Type | Description |
|---|---|
| Definition | ELOVL fatty acid elongase 4 |
| Date | Results | Publications |
|---|---|---|
| 2018-08-11 10:07:00 | A highly reduced activity of the ELOVL4 promoter was registered due to combination of two variants. Decrease of ELOVL4 enzymatic activity could lead to a deficiency of VLC-PUFA, essential components for rods function and longevity, which are among the parameters involved in the etiopathogenesis of stargardt disease. | 29417145 |
| 2018-06-02 11:55:00 | Normalization of retinal ELOVL4 expression could prevent blood-retinal barrier dysregulation in diabetic retinopathy through an increase in very long-chain ceramides and stabilization of tight junctions. | 29362226 |
| 2017-08-19 10:38:00 | Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene | 27116512 |
| 2017-02-25 11:22:00 | In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD etiopathogenesis. | 27813578 |
| 2016-09-10 10:57:00 | In patients with intrahepatic cholestasis of pregnancy, there was no elevation in ELOVL4 mRNA in maternal circulation compared with controls. | 25059952 |
| Type | IDs |
|---|---|
| Synonymous | ADMD, CT118, ISQMR, SCA34, STGD2, STGD3 |
| Gene |
UniProtKB-ID:
ELOV4_HUMAN
UniprotKB:
Q9GZR5
UniParc:
UPI0000049DA1
EMBL:
AF277094,
AF279650,
AF279651,
AY037298,
AL133475,
AL132875,
AF279653,
AK055277,
AF279649,
AF279652,
AF279654,
CH471051,
BC038506,
AK312511
Ensembl:
ENSG00000118402
KO:
hsa:6785
|
| Nucleutide sequences |
EMBL-CDS:
BAB70895.1,
BAG35412.1,
AAK68639.1,
AAH38506.1,
EAW48701.1,
AAG47668.1,
AAG47669.1
Ensembl_TRS:
ENST00000369816
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000358831
RefSeq:
NP_073563.1
|
| Others |
UniRef100:
UniRef100_Q9GZR5
UniRef90:
UniRef90_Q9GZR5
UniRef50:
UniRef50_Q9GZR5
UniGene:
Hs.101915
CCDS:
CCDS4992.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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