ELOVL4 gene

The ELOVL4 gene (ELOVL4 stands for Elongation Of Very Long Chain Fatty Acids 4 ) is a protein-coding gene located on chromosome 6q14.1. An important paralog of this gene is ELOVL7.

The ELOVL4 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.

Diseases associated with ELOVL4 include:

• Spinocerebellar ataxia 34 (autosomal dominant disorder characterized by a slowly progressive cerebellar ataxia that typically begins in young adulthood.
• and
• Ichthyosis congenital, spastic quadriplegia and impaired intellectual development.

The encoded protein catalyzes the first and rate-limiting reaction of the four reactions that form the elongation cycle of long-chain fatty acids. This enzymatic process bound to the endoplasmic reticulum enables the addition of 2 carbons to the chain of long and very long chain fatty acids (VLCFAs) per cycle. They may play a crucial role in early brain and skin development.

1. Alabdulrazzaq F et al. (2023) Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis. Mol Genet Genomic Med 11:e2256.
2. Coarelli G, Coutelier M, Durr A. Autosomal dominant cerebellar ataxias: new genes and progress towards treatments. Lancet Neurol. 2023 Aug;22(8):735-749.
3. Gyening YK et al. (2023) ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis. J Lipid Res 64:100317.