DISEASES

Disease-gene associations mined from literature

Literature associating PQLC2 and cystinosis

PQLC2 [ENSP00000364295]

Lysosomal amino acid transporter 1 homolog; Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes.

Synonyms:  PQLC2,  PQLC2p,  hPQLC2,  A0A024RA97,  A0A024RAA1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM