Pub. Date : 2017 Jun
PMID : 28638260
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. | Cystine | cystinosin, lysosomal cystine transporter | Homo sapiens |