Article
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis.
Cold Spring Harbor molecular case studies - 1 Dec 2019
Ragi Sara D, Lima de Carvalho Jose Ronaldo, Tanaka Akemi J, Park Karen Sophia, Mahajan Vinit B, Maumenee Irene H, Tsang Stephen H
Abstract excerpt
The PROM1 (prominin 1) gene encodes an 865-amino acid glycoprotein that is expressed in retinoblastoma cell lines and in the adult retina. The protein is localized to photoreceptor outer segment disc membranes, where it plays a structural role, and in the retinal pigment epithelium (RPE), where it acts as a cytosolic protein that mediates autophagy. Mutations in PROM1 are typically associated with cone-rod...
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