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Malignant cells generally showed moderate cytoplasmic immunoreactivity. Several gastric, pancreatic and ovarian cancers as well as fractions of cholangiocarcinomas were strongly stained. Breast, skin, testicular and renal cancers were negative in several cases.
The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]