CTNS

(redirected from cystinosin)

CTNS

A gene on chromosome 17p13 that encodes a 7-transmembrane domain protein, which transports cystine out of lysosomes driven by the H+ electrochemical gradient of the lysosomal membrane.

Molecular pathology
CTNS mutations cause nephropathic cystinosis, a lysosomal storage disease.
References in periodicals archive ?
Cystinosin, the protein defective in cystinosis, is a H( + ) driven lysosomal cystine transporter EMBO J.
The disorder results from dysfunction or absence of the cystinosin protein, a lysosomal membrane transporter that serves to export cystine from the lumen of the lysosome (2, 3).
Although cystinosis can manifest either in infancy or adolescence, mutations in the same gene, CTNS, which encodes cystinosin, appear to be involved in all forms of the disease.