ELOVL4
ELOVL fatty acid elongase 4
Normal Function
Health Conditions Related to Genetic Changes
Stargardt macular degeneration
A few variants (also called mutations) in the ELOVL4 gene have been found to cause Stargardt macular degeneration. These variants create a premature stop signal in the instructions used to make the ELOVL4 protein. This causes the protein to form clumps (aggregates) in the endoplasmic reticulum of photoreceptors. These aggregates cannot make very long-chain fatty acids and may interfere with cell functions, ultimately leading to cell death. The loss of photoreceptors causes progressive vision loss in people with Stargardt macular degeneration.
More About This Health ConditionRelated Conditions
Stargardt macular degenerationAge-related macular degeneration
Health Conditions Related to Genetic Changes
A few variants (also called mutations) in the ELOVL4 gene have been found to cause Stargardt macular degeneration. These variants create a premature stop signal in the instructions used to make the ELOVL4 protein. This causes the protein to form clumps (aggregates) in the endoplasmic reticulum of photoreceptors. These aggregates cannot make very long-chain fatty acids and may interfere with cell functions, ultimately leading to cell death. The loss of photoreceptors causes progressive vision loss in people with Stargardt macular degeneration.
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