DISEASES

Disease-gene associations mined from literature

Literature associating CTNS and cystinosis

CTNS [ENSP00000371294]

Cystinosin, lysosomal cystine transporter; Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR; Belongs to the cystinosin family.

Synonyms:  CTNS,  A8MXW3,  C9JMM9,  CTNS-001,  CTNS-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM