Also known as CTNS-LSB, PQLC4, cystinosin, lysosomal cystine transporter, SLC66A4
protein-coding gene in the species Homo sapiens
This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009].
via MyGene.info
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).