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Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene.

ELOVL4 is a member of a large family of fatty acid elongases (ELO) that catalyzes the rate-limiting step in the elongation of long chain fatty acids (LC-FA) into very long-chain saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids, collectively known as VLC-FA (very long chain fatty acid). ELOVL4 and its products are found in the brain, skin, retina, meibomian glands, testes and sperm. Known mutations of ELOVL4 in humans cause diseases such as Autosomal Dominant Stargardt-like Macular Dystrophy (STGD3), spinocerebellar ataxia-34 (SCA34), skin deformities and seizures.

Function

ELOVL4 is associated with a variety of cellular processes:


 * Lipid metabolism
 * Visual system

Disease associations

Mutations in the ELOVL4 gene have been linked to several inherited disorders characterized by abnormalities in lipid metabolism and neuronal function.

Genetic disorders


 * Stargardt Disease: Certain mutations in the ELOVL4 gene are associated with Stargardt disease, a form of juvenile macular degeneration    characterized by progressive vision loss due to dysfunction and degeneration of the retina's photoreceptor cells.
 * Spinocerebellar Ataxia Type 34 (SCA34): SCA34 is a rare neurodegenerative disorder caused by mutations in the ELOVL4 gene. It is    characterized by progressive impairment of coordination and balance, along with other neurological symptoms.
 * Ichthyosis: Some ELOVL4 mutations are linked to forms of ichthyosis, a group of skin disorders characterized by dry, scaly skin due to abnormal epidermal lipid composition and barrier function.

Research

Research into the function and regulation of ELOVL4 continues to shed light on the role of VLCFAs in health and disease, particularly in the context of neurodegenerative and lipid-related disorders. Understanding the molecular mechanisms underlying ELOVL4-related diseases may provide insights into potential therapeutic strategies aimed at restoring normal lipid metabolism and cellular function.