CTNS

(redirected from cystinosis nephropathic)

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 ?
About Nephropathic Cystinosis Nephropathic cystinosis comprises 95% of cystinosis, a rare, life-threatening metabolic lysosomal storage disorder that causes toxic accumulation of cystine in all cells, tissues, and organs in the body.