ELOVLA Gene

The ELOVLA gene (ELOVL stands for Elongation Of Very Long Chain Fatty Acid Elongase 4) is a protein-coding gene located on chromosome 6q14.1. The gene encodes a membrane-bound protein that belongs to the ELO family, proteins involved in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in retinal photoreceptor cells, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also known as autosomal dominant atrophic macular degeneration.

The encoded protein is a condensing enzyme that catalyzes the synthesis of very long-chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids, which are involved in numerous biological processes as precursors of membrane lipids and lipid mediators. The enzyme may play an important role in early brain and skin development.

Diseases associated with ELOVL4 include:

• Ichthyosis-spastic quadriplegia-mental retardation (OMIM: 614457).
• Spinocerebellar Ataxia 34 (SCA34).

1. Aldahmesh MA et al (2011) Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 89: 745-750.
2. Diociaiuti A et al (2021) Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization. Genes (Basel) 12:343.
3. Vasireddy V et al. (2007) Loss of functional ELOVL4 depletes very long-chain fatty acids (greater than C28) and the unique omega-O-acylceramides in skin leading to neonatal death. Hum Molec Genet 16: 471-482.