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gene: ELOVL4

id6785
symbolELOVL4
organismHomo sapiens
full nameELOVL fatty acid elongase 4
summaryThis 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 2008]
variant-disease

NM_022726.4(ELOVL4):c.789_793delinsAAC (p.Asn264fs) AND Stargardt Disease 3

NM_022726.4(ELOVL4):c.-236C>G AND Stargardt Disease, Dominant

NM_022726.4(ELOVL4):c.699G>A (p.Thr233=) AND not specified

NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) AND not provided

NM_022726.4(ELOVL4):c.*238_*242del AND Stargardt Disease, Dominant

... 96 more


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