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 |
|
|
| lysosome |
|
|
| 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 |
|
|
| L-cystine transmembrane transporter 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 |
|---|---|---|
| 174308 | WB:WBGene00008052 | |
| 42723 | FB:FBgn0039045 | |
| 1497 | HGNC:2518 | |
| 850438 | SGD:S000000671 |
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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: April 6, 2026