Product Name
Elongation of very long chain fatty acids protein 4 (ELOVL4), Recombinant Protein
Full Product Name
Recombinant Human Elongation of very long chain fatty acids protein 4 (ELOVL4)
Product Gene Name
ELOVL4 recombinant protein
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence Positions
1-314aa; full length protein
Sequence
MGLLDSEPGS VLNVVSTALN DTVEFYRWTW SIADKRVENW PLMQSPWPTL SISTLYLLFV WLGPKWMKDR EPFQMRLVLI IYNFGMVLLN LFIFRELFMG SYNAGYSYIC QSVDYSNNVH EVRIAAALWW YFVSKGVEYL DTVFFILRKK NNQVSFLHVY HHCTMFTLWW IGIKWVAGGQ AFFGAQLNSF IHVIMYSYYG LTAFGPWIQK YLWWKRYLTM LQLIQFHVTI GHTALSLYTD CPFPKWMHWA LIAYAISFIF LFLNFYIRTY KEPKKPKAGK TAMNGISANG VSKSEKQLMI ENGKKQKNGK AKGD
3D Structure
ModBase 3D Structure for Q9GZR5
Host
Cell Free Expression
Form/Format
Liquid containing glycerol
Storage Buffer
Tris-based buffer, 50% glycerol.
Preparation and Storage
Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of ELOVL4 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Product Categories/Family for ELOVL4 recombinant protein
Transmembrane Protein
Application Notes for ELOVL4 recombinant protein
This is a recombinant transmembrane protein expressed in a cell-free expression system.
NCBI/Uniprot data below describe general gene information for ELOVL4. It may not necessarily be applicable to this product.
NCBI Accession #
NP_073563.1
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NCBI GenBank Nucleotide #
NM_022726.3
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UniProt Primary Accession #
Q9GZR5
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UniProt Secondary Accession #
Q5TCS2; Q86YJ1; Q9H139; B2R6B5[Other Products]
UniProt Related Accession #
Q9GZR5[Other Products]
Molecular Weight
36,829 Da
NCBI Official Full Name
elongation of very long chain fatty acids protein 4
NCBI Official Synonym Full Names
ELOVL fatty acid elongase 4
NCBI Official Symbol
ELOVL4??[Similar Products]
NCBI Official Synonym Symbols
ADMD; CT118; ISQMR; SCA34; STGD2; STGD3
??[Similar Products]
NCBI Protein Information
elongation of very long chain fatty acids protein 4
UniProt Protein Name
Elongation of very long chain fatty acids protein 4
UniProt Synonym Protein Names
3-keto acyl-CoA synthase ELOVL4
Protein Family
Elongation of very long chain fatty acids protein
UniProt Gene Name
ELOVL4??[Similar Products]
UniProt Synonym Gene Names
ELOVL FA elongase 4??[Similar Products]
UniProt Entry Name
ELOV4_HUMAN
NCBI Summary for ELOVL4
This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
UniProt Comments for ELOVL4
ELOVL4: Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor- specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. May play a critical role in early brain and skin development. Defects in ELOVL4 are the cause of Stargardt disease type 3 (STGD3). STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD3 inheritance is autosomal dominant. Defects in ELOVL4 are the cause of ichthyosis, spastic quadriplegia, and mental retardation (ISQMR). A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. Belongs to the ELO family.
Protein type: Membrane protein, multi-pass; Cancer Testis Antigen (CTA); Endoplasmic reticulum; Membrane protein, integral; EC 2.3.1.199
Chromosomal Location of Human Ortholog: 6q14
Cellular Component: endoplasmic reticulum; integral to endoplasmic reticulum membrane
Molecular Function: G-protein coupled photoreceptor activity; protein binding; transferase activity
Biological Process: detection of visible light; fatty acid biosynthetic process; fatty acid elongation, saturated fatty acid; very-long-chain fatty acid biosynthetic process
Disease: Spinocerebellar Ataxia 34
Research Articles on ELOVL4
1. Spinocerebellar ataxia was associated with a novel mutation in ELOVL4 in a large family pedigree.
Precautions
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Disclaimer
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