Aliases for SLC7A14 Gene
External Ids for SLC7A14 Gene
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]
GeneCards Summary for SLC7A14 Gene
SLC7A14 (Solute Carrier Family 7, Member 14) is a Protein Coding gene. Diseases associated with SLC7A14 include retinitis pigmentosa 68 and cystinuria. GO annotations related to this gene include amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A3.
UniProtKB/Swiss-Prot for SLC7A14 Gene
May be involved in arginine transport.