Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene.[5][6]
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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).[7][8] ELOVL4 and its products are found in the brain, skin, retina, meibomian glands, testes and sperm.[9][10][11][12][13][14][15] 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.[16][17][18][19][20][21][22][23][24][25]
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