cystinosis, nephropathic
| GO Term | Evidence Code | PMID |
|---|---|---|
| lens development in camera-type eye | ||
| glutathione metabolic process | ||
| glutathione metabolic process | ||
| brain development | ||
| brain development |
| GO Term | Evidence Code | PMID |
|---|---|---|
| lysosome | ||
| lysosome | ||
| lysosomal membrane | ||
| lysosomal membrane | ||
| lysosomal membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| L-cystine transmembrane transporter activity | ||
| L-cystine transmembrane transporter activity | ||
| L-cystine transmembrane transporter activity | ||
| L-cystine transmembrane transporter activity | ||
| solute:proton symporter activity |
| Gene Ontology |
|---|
| L-cystine transmembrane transporter activity |
| InterPro |
|---|
| Lysosomal cystine transporter |
| PQ-loop repeat |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1064 | cystinosis |
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 1497 | Xenbase:XB-GENE-1006266 | HUMAN30858 | |
| 42723 | Xenbase:XB-GENE-1006266 | ||
| 83429 | Xenbase:XB-GENE-1006266 | ||
| 174308 | Xenbase:XB-GENE-1006266 | ||
| 287478 | RATNO00724 | ||
| 553594 | DANRE02414 | ||
| 613527 | BOVIN12569 | ||
| 706721 | MACMU15740 | ||
| 748043 | PANTR13254 | ||
| 850438 | Xenbase:XB-GENE-1006266 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025