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Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4
Sreemathi Logan1, Robert E Anderson
1Department of Cell Biology, University of Oklahoma Health Sciences Center, 608 Stanton L. Young Boulevard, 73104, Oklahoma City, OK, USA, slogan1@ouhsc.edu.
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.
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