SLC7A14
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Solute carrier family 7, member 14 is a protein that in humans is encoded by the SLC7A14 gene. [1]
Function
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. [provided by RefSeq, Apr 2014].
References
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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