SLC7A14, Official Symbol SLC7A14provided by HGNC Official Full Name solute carrier family 7 member 14provided by HGNC Primary source HGNC:HGNC:29326 See related Ensembl:ENSG00000013293 MIM:615720; AllianceGenome:HGNC:29326 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PPP1R142 Summary 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] Expression Biased expression in brain (RPKM 21.6) and adrenal (RPKM 2.0) See more Orthologs mouse all