Synonyms:CTNS, CTNS-LSB, ENTREZ:1497, HGNC:2518, MIM:606272, NM_001031681, NM_001374492, NM_001374493, NM_001374494, NM_001374495, NM_001374496, NM_004937, NP_001026851, NP_001361421, NP_001361422, NP_001361423, NP_001361424, NP_001361425, NP_004928, PQLC4, SLC66A4, XM_006721463, XM_006721464, XM_011523691, XM_011523692, XM_017024254, XP_006721526, XP_006721527, XP_011521993, XP_011521994, XP_016879743, cystinosin, lysosomal cystine transporter
Omim:OMIM:606272
Id:ENSG00000040531
Hgnc:HGNC:2518
Description:cystinosin, lysosomal cystine transporter
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]