Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4.
Adv Exp Med Biol
; 801: 447-53, 2014.
Article
em En
| MEDLINE
| ID: mdl-24664730
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas do Olho
/
Degeneração Macular
/
Proteínas de Membrana
Limite:
Animals
/
Humans
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article