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Article

Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival.

International journal of biological sciences - 6 Feb 2007

Cameron D Joshua, Tong Zongzhong, Yang Zhenglin, Kaminoh Jack, Kamiyah Shin, Chen Haoyu, Zeng Jiexi, Chen Yali, Luo Ling, Zhang Kang

Abstract excerpt

Mutations in the gene ELOVL4 have been shown to cause stargardt-like macular dystrophy. ELOVL4 is part of a family of fatty acid elongases and is yet to have a specific elongase activity assigned to it. We generated Elovl4 Y270X mutant mice and characterized the homozygous mutant as well as homozygous Elovl4 knockout mice in order to better understand the function or role of Elovl4. We found that mice lacking a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17304340
DOI: 10.7150/ijbs.3.111
PMCID: PMC1796949

Genes

ELOVL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival.PMID 17304340Read ↗

Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient miceSemantic proximity Read ↗

Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death.Semantic proximity Read ↗

Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.Semantic proximity Read ↗

In vivo effect of mutant ELOVL4 on the expression and function of wild-type ELOVL4.Semantic proximity Read ↗

Homozygous Expression of Mutant ELOVL4 Leads to Seizures and Death in a Novel Animal Model of Very Long-Chain Fatty Acid Deficiency.Semantic proximity Read ↗

Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.Semantic proximity Read ↗

ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.Semantic proximity Read ↗

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.Semantic proximity Read ↗

Role for ELOVL3 and Fatty Acid Chain Length in Development of Hair and Skin FunctionSemantic proximity Read ↗

A comprehensive review of the family of very-long-chain fatty acid elongases: structure, function, and implications in physiology and pathologySemantic proximity Read ↗

Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.Semantic proximity Read ↗

The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.Semantic proximity Read ↗

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