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Article

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.

Genomics - 1 Apr 2004

Ambasudhan Rajesh, Wang XiaoFei, Jablonski Monica M, Thompson Debra A, Lagali Pamela S, Wong Paul W, Sieving Paul A, Ayyagari Radha

Abstract excerpt

Elongation of very long chain fatty acids 4 (ELOVL4) is a novel member of the ELO family of genes that are involved in fatty acid metabolism. ELOVL4 encodes a putative transmembrane protein of 314 amino acids that carries a possible endoplasmic reticulum (ER) retention/retrieval signal (KXKXX) at...

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Source

Identifiers

PMID: 15028284
DOI: 10.1016/j.ygeno.2003.10.004

Genes

ELOVL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15028284-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.PMID 15028284Read ↗

Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks.Semantic proximity Read ↗

Expression of wild type and mutant ELOVL4 in cell culture: subcellular localization and cell viability.Semantic proximity Read ↗

Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4.Semantic proximity Read ↗

Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.Semantic proximity Read ↗

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.Semantic proximity Read ↗

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

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

Genetics and molecular pathology of Stargardt-like macular degeneration.Semantic proximity Read ↗

A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines.Semantic proximity Read ↗

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

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

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