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ELOVL fatty acid elongase 4

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] (from NCBI)
Top mentioned proteins: ACID, AGE, ROD, HAD, CAN
Papers on ELOVL4
Pennesi et al., Portland, United States. In Retina, Jan 2016
PURPOSE: Autosomal dominant Stargardt-like macular dystrophy is a rare juvenile macular dystrophy most commonly because of mutations in ELOVL4 and PROM1 genes.
Mouse Models of Stargardt 3 Dominant Macular Degeneration.
Krizaj et al., Salt Lake City, United States. In Adv Exp Med Biol, Dec 2015
In vitro expression studies suggest that mutated ELOVL4(STGD3) proteins fold improperly, resulting in ER stress and formation of cytosolic aggresomes of wild type and mutant ELOVL4.
Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.
Agbaga, Oklahoma City, United States. In Adv Exp Med Biol, Dec 2015
One member of the family of elongases, ELOngation of Very Long chain fatty acids-4 (ELOVL4), mediates the biosynthesis of both saturated and unsaturated very long chain fatty acids (VLC-FA; > C26) in the retina, meibomian gland, brain, skin, and testis.
Current Progress in Deciphering Importance of VLC-PUFA in the Retina.
Anderson et al., Dallas, United States. In Adv Exp Med Biol, Dec 2015
Stargardt-like macular dystrophy-3 (STGD3) is a juvenile-onset disease caused by mutations in ELOVL4 (elongation of very long fatty acids-4).
Early Onset Ultrastructural and Functional Defects in RPE and Photoreceptors of a Stargardt-Like Macular Dystrophy (STGD3) Transgenic Mouse Model.
Sauvé et al., Edmonton, Canada. In Invest Ophthalmol Vis Sci, Dec 2015
PURPOSE: We investigated the interplay between photoreceptors expressing mutant ELOVL4 (responsible for Stargardt-like disease, STGD3) and RPE in the initial stages of retinal degeneration.
Polyunsaturated fatty acid metabolism in a marine teleost, Nibe croaker Nibea mitsukurii: Functional characterization of Fads2 desaturase and Elovl5 and Elovl4 elongases.
Yoshizaki et al., Tokyo, Japan. In Comp Biochem Physiol B Biochem Mol Biol, Oct 2015
The present study aimed to investigate the biochemical functions of the Elovl5, Elovl4 and Fads2 enzymes involved in the DHA biosynthetic pathway in the Nibe croaker.
Identification of genes involved in reproduction and lipid pathway metabolism in wild and domesticated shrimps.
Glencross et al., Barcelona, Spain. In Mar Genomics, Aug 2015
Quantitative RT-PCR of these genes in the hepatopancreas prior to spawning showed that the domesticated mature females significantly showed higher expression of the Pm Elovl4, Pm COX and Pm SUMO genes.
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
Ishikawa et al., Tokyo, Japan. In Jama Neurol, Jul 2015
Using linkage analysis combined with exome and whole-genome sequencing, we identified a novel heterozygous mutation in the ELOVL fatty acid elongase 4 (ELOVL4) gene (c.736T>G,
[Genotype-phenotype correlation in patients with PRPH2-mutations].
Rudolph et al., Tübingen, Germany. In Klin Monbl Augenheilkd, Mar 2015
Blood samples were taken for DNA extraction and mutation analysis of PRPH2 and ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, RDH12, RP1L1, RPGR, TIMP3 was performed.
Reduced filaggrin expression is accompanied by increased Staphylococcus aureus colonization of epidermal skin models.
El Ghalbzouri et al., Leiden, Netherlands. In Clin Exp Allergy, 2014
Furthermore, the S. aureus colonization induced changes in mRNA expression of ELOVL4 was not affected by FLG-KD, but was blocked by IL-31.
Comparative Analysis and Distribution of Omega-3 lcPUFA Biosynthesis Genes in Marine Molluscs.
Pavasovic et al., Brisbane, Australia. In Plos One, 2014
For Elovl sequences, one clade contained the functionally characterised Elovl5 proteins, while another clade contained proteins hypothesised to have Elovl4 function.
Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4.
Anderson et al., Oklahoma City, United States. In Adv Exp Med Biol, 2013
Autosomal dominant Stargardt3 Macular Dystrophy (STGD3) results from mutations in the ELOVL4 gene.
Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function.
Zhang et al., San Diego, United States. In J Biol Chem, 2012
the critical role of Elovl4 for proper rod or cone photoreceptor function
The bisretinoids of retinal pigment epithelium.
Zhou et al., New York City, United States. In Prog Retin Eye Res, 2012
Nevertheless, the formation of this material is accelerated in some retinal disorders including recessive Stargardt disease and ELOVL4-related retinal degeneration.
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.
Alkuraya et al., Riyadh, Saudi Arabia. In Am J Hum Genet, 2012
recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease
Inherited macular dystrophies and differential diagnostics.
Jašinskas et al., Kaunas, Lithuania. In Medicina (kaunas), 2011
It is known seven gene mutations (ABCA4, ELOVL4, PROML1, VMD2, Peripherin/RDS, TIMP3, XLRS), which may cause inherited macular dystrophies development.
Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.
Kedzierski et al., Dallas, United States. In J Lipid Res, 2011
Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.
[Association of M299V variant in ELOVL4 gene with exudative age-related macular degeneration in a Chinese population].
Liu et al., Beijing, China. In Zhonghua Yan Ke Za Zhi, 2010
There was no association between the M299V variant in ELOVL4 gene and exudative age-related macular degeneration in a Chinese population.
Hetero-oligomeric interactions of an ELOVL4 mutant protein: implications in the molecular mechanism of Stargardt-3 macular dystrophy.
Kihara et al., Sapporo, Japan. In Mol Vis, 2009
Not only the ELOVL4-ELOVL4DeltaC homo-oligomeric interaction, but also several hetero-oligomeric interactions, may contribute to the pathology of Stargardt disease 3.
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
Petrukhin et al., Baltimore, United States. In Nat Genet, 2001
Here we limit the minimum genetic region for STGD3 and adMD to a 0.6-cM interval by recombination breakpoint mapping and identify a single 5-bp deletion within the protein-coding region of a new retinal photoreceptor-specific gene, ELOVL4, in all affected members of STGD3 and adMD families.
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