ELOVL4

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolELOVL4
NameELOVL fatty acid elongase 4
Typeprotein-coding
Sourcemygene

Summary

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 20

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