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 ?
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.