Product Details

Target Names

ELOVL4

Uniprot No.

Alternative Names

ELOVL4; Elongation of very long chain fatty acids protein 4; 3-keto acyl-CoA synthase ELOVL4; ELOVL fatty acid elongase 4; ELOVL FA elongase 4; Very long chain 3-ketoacyl-CoA synthase 4; Very long chain 3-oxoacyl-CoA synthase 4

Species

Homo sapiens (Human)

Expression Region

1-314

Target Protein Sequence

MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFV WLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVH EVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQ AFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTD CPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMI ENGKKQKNGKAKGD

Protein Length

full length protein

Tag Info

Tag type will be determined during the manufacturing process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Form

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer before Lyophilization

Tris/PBS-based buffer, 6% Trehalose, pH 8.0

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet

Please contact us to get it.

Target Background

Function

Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development.

Gene References into Functions

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. PMID: 29417145
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. PMID: 29362226
Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene PMID: 27116512
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. PMID: 27813578
In patients with intrahepatic cholestasis of pregnancy, there was no elevation in ELOVL4 mRNA in maternal circulation compared with controls. PMID: 25059952
Both ELOVL4- and PROM1-related maculopathies are characterized by progressive photoreceptor atrophy and central vision loss. Using advanced diagnostic imaging, early disease changes and disease progression can be characterized. PMID: 26110599
different mutations in ELOVL4 can cause variable phenotypic neurological disorders (Review) PMID: 26427403
Spinocerebellar ataxia was associated with a novel mutation in ELOVL4 in a large family pedigree. PMID: 26010696
In this review, we summarize our current understanding of the disease-causing mutation and its potential role in STGD3 pathogenesis. PMID: 24664730
We propose that transgenic expression of ELOVL4 in the liver will result in the biosynthesis of very long chain-PUFA that can be transported to target. PMID: 24664752
ELOVL4 is identified as the causative gene for erythrokeratodermia variabilis and spinocerebellar ataxia in a French-Canadian family. PMID: 24566826
A novel homozygous nonsense mutation in ELOVL4 cuases a neuro-ichthyotic disorder with variable expressivity. PMID: 24571530
Coexpression of different forms of wild-type and mutant ELOVL4 revealed a large dominant-negative effect of mutant protein on ELOVL4 localization and enzymatic activity, resulting in reduced VLC-PUFA synthesis. PMID: 23509295
5 single nucleotide polymorphisms (SNPs: rs3812153, rs7764439, rs390659, rs434102 and c:929G>A) were detected in ELOVL4. PMID: 22948568
Mutation in ELOVL4 gene is associated with Stargardt Disease. PMID: 22863181
recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease PMID: 22100072
Not only the ELOVL4-ELOVL4DeltaC homo-oligomeric interaction, but also several hetero-oligomeric interactions, may contribute to the pathology of Stargardt disease 3. PMID: 21139992
There was no association between the M299V variant in ELOVL4 gene and exudative age-related macular degeneration in a Chinese population. PMID: 20388345
Pathogenic mutations found in the ELOVL4 gene result in altered trafficking of the protein and behave with a dominant negative effect. PMID: 20096366
Recessive retinitis pigmentosa and Leber congenital amaurosis are rarely if ever associated with changes in the ELOVL4 gene. PMID: 12592226
The ELOVL4 gene is highly conserved throughout evolution and is expressed in the photoreceptor cells of the retina in a variety of different species PMID: 12824221
DNA sequence analysis showed a 5-bp deletion in exon 6 of the ELOVL4 gene, confirming the diagnosis of autosomal dominant Stargardt-like macular dystrophy. PMID: 12967813
mutations in ELOVL4 result in the intracellular misrouting of the protein in macular degeneration PMID: 15028284
ELOVL4 contributes to the autosomal dominant inheritance of Stargardt-like macular dystrophy PMID: 16036915
analysis of non-pathogenic polymorphisms in the ELOVL4 in Chinese patients with autosomal dominant STGD3-like macular dystrophy PMID: 16364203
This study demonstrates that dietary factors can influence the severity of an inherited human macular dystrophy. PMID: 16476896
No association with AMD was detected with Met299Val polymorphism in the ELOVL4 gene in the familial or sporadic cases compared to non-AMD or blood donor controls. PMID: 16885922
Role for Elovl4 in acylceramide synthesis, and in particular, a role in the synthesis of the unique very long chain C30-C40 fatty acids present in skin acylceramides. PMID: 17356513
mutational analysis shows ELOVL4 is not involved in the pathogenesis of RP25 PMID: 11474659

Hide All

Involvement in disease

Stargardt disease 3 (STGD3); Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR); Spinocerebellar ataxia 34 (SCA34)

Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Protein Families

ELO family, ELOVL4 subfamily

Tissue Specificity

Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates.

Database Links

HGNC: 14415

OMIM: 133190

KEGG: hsa:6785

STRING: 9606.ENSP00000358831

UniGene: Hs.101915

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Code	CSB-CF880925HU
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Source	in vitro E.coli expression system
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Recombinant Human Elongation of very long chain fatty acids protein 4 (ELOVL4)

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