title: Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4.
abstract: Autosomal dominant Stargardt3 Macular Dystrophy (STGD3) results from mutations in the ELOVL4 gene. ELOVL4 protein localizes to the endoplasmic reticulum (ER), where it mediates the rate-limiting condensation reaction during very long-chain (VLC, ≥  C28) fatty acid biosynthesis. The defective gene product is truncated at the C-terminus, leading to mislocalization and aggregation in other organelles. In this review, we summarize our current understanding of the disease-causing mutation and its potential role in STGD3 pathogenesis.
authors.affiliation: Department of Cell Biology, University of Oklahoma Health Sciences Center, 608 Stanton L. Young Boulevard, 73104, Oklahoma City, OK, USA, slogan1@ouhsc.edu.
authors.forename: Sreemathi
authors.initials: S
authors.lastname: Logan
authors.forename: Robert E
authors.initials: RE
authors.lastname: Anderson
mesh_terms: D000818:Animals; D004721:Endoplasmic Reticulum / Q000378:metabolism; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005799:Genes, Dominant; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital* / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C418975:ELOVL4 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins