S7A14 Rabbit Polyclonal Antibody

This gene is predicted to encode a glycosylated| cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts| neural tissue| and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice| this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina.