Cystinosin is a melanosomal protein that regulates melanin synthesis.

doi:10.1096/fj.11-201376

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Article

Cystinosin is a melanosomal protein that regulates melanin synthesis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Sept 2012

Chiaverini Christine, Sillard Laura, Flori Enrica, Ito Shosuke, Briganti Stefania, Wakamatsu Kazumasa, Fontas Eric, Berard Etienne, Cailliez Mathilde, Cochat Pierre, Foulard Michel, Guest Geneviève, Niaudet Patrick, Picardo Mauro, Bernard François-Xavier, Antignac Corinne, Ortonne Jean Paul, Ballotti Robert

Abstract excerpt

Cystinosis is a rare autosomal recessive disease characterized by cystine crystal accumulation leading to multiorgan dysfunctions and caused by mutation in CTNS. CTNS encodes cystinosin, a cystine/H(+) symporter that exports cystine out of the lysosomes. Patients with cystinosis frequently exhibit blond hair and fair complexion, suggesting an alteration in melanogenesis. However, the pigmentation singularities of...

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PMID: 22649030
DOI: 10.1096/fj.11-201376

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CTNS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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